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Wyszukujesz frazę ""Homozygote"" wg kryterium: Temat


Tytuł :
Development of multiplex genome editing toolkits for citrus with high efficacy in biallelic and homozygous mutations.
Autorzy :
Huang X; Citrus Research and Education Center, Department of Microbiology and Cell Science, Institute of Food and Agricultural Sciences (IFAS), University of Florida, Lake Alfred, FL, USA.
Wang Y; Citrus Research and Education Center, Department of Microbiology and Cell Science, Institute of Food and Agricultural Sciences (IFAS), University of Florida, Lake Alfred, FL, USA.
Xu J; Citrus Research and Education Center, Department of Microbiology and Cell Science, Institute of Food and Agricultural Sciences (IFAS), University of Florida, Lake Alfred, FL, USA.
Wang N; Citrus Research and Education Center, Department of Microbiology and Cell Science, Institute of Food and Agricultural Sciences (IFAS), University of Florida, Lake Alfred, FL, USA. .
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Źródło :
Plant molecular biology [Plant Mol Biol] 2020 Oct; Vol. 104 (3), pp. 297-307. Date of Electronic Publication: 2020 Aug 03.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Kluwer Academic Country of Publication: Netherlands NLM ID: 9106343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-5028 (Electronic) Linking ISSN: 01674412 NLM ISO Abbreviation: Plant Mol. Biol. Subsets: MEDLINE
MeSH Terms :
Homozygote*
Mutation*
Citrus/*genetics
Gene Editing/*methods
Genome, Plant/*genetics
CRISPR-Cas Systems ; Gene Knockout Techniques ; Genes, Plant/genetics ; Plants, Genetically Modified ; Promoter Regions, Genetic ; Protoplasts ; RNA, Guide/genetics ; RNA, Transfer/genetics
Czasopismo naukowe
Tytuł :
Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2.
Autorzy :
Arya S; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India.
Tiwari A; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India.
Lila AR; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India.
Sarathi V; Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, India.
Bhandare VV; Department of Biosciences and Bioengineering, Indian Institute of Technology Bombay, Powai, Mumbai, India.
Kumbhar BV; Department of Biosciences and Bioengineering, Indian Institute of Technology Bombay, Powai, Mumbai, India.
Rai K; Department of Biosciences and Bioengineering, Indian Institute of Technology Bombay, Powai, Mumbai, India.
Kunwar A; Department of Biosciences and Bioengineering, Indian Institute of Technology Bombay, Powai, Mumbai, India.
Thakkar H; Department of Radiology, Seth G S Medical College and KEM Hospital, Mumbai, India.
Thakkar K; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India.
Memon SS; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India.
Patil V; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India.
Khadilkar K; Department of Endocrinology, Narayana Health City, Bangalore, India.
Jadhav SS; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India.
Shah NS; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India.
Bandgar T; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India.
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Źródło :
European journal of endocrinology [Eur J Endocrinol] 2020 Sep; Vol. 183 (3), pp. 275-284.
Typ publikacji :
Journal Article
Journal Info :
Publisher: BioScientifica Ltd Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur. J. Endocrinol. Subsets: MEDLINE
MeSH Terms :
Homozygote*
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/*deficiency
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/*genetics
Disorders of Sex Development/*enzymology
Adolescent ; Adult ; Child ; Child, Preschool ; Disorders of Sex Development/genetics ; Disorders of Sex Development/pathology ; Female ; Gender Identity ; Genotype ; Humans ; India ; Infant ; Infant, Newborn ; Male ; Molecular Dynamics Simulation ; Mutation/genetics ; NADP/metabolism ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Retrospective Studies ; Young Adult
Czasopismo naukowe
Tytuł :
The evaluation of genomic homozygosity for Xinjiang inbred population by SNP panels.
Autorzy :
Shi R; Key Laboratory of Animal Genetics, Breeding and Reproduction(MARA), National Engineering Laboratory for Animal Breeding, College of Animal Science and Technology, China Agricultural University, Beijing 100193, China.
Zhang Y; Key Laboratory of Animal Genetics, Breeding and Reproduction(MARA), National Engineering Laboratory for Animal Breeding, College of Animal Science and Technology, China Agricultural University, Beijing 100193, China.
Wang YC; Key Laboratory of Animal Genetics, Breeding and Reproduction(MARA), National Engineering Laboratory for Animal Breeding, College of Animal Science and Technology, China Agricultural University, Beijing 100193, China.
Huang T; College of Animal Science and Technology, Xinjiang Shihezi University, Shihezi 832000, China.
Lu GC; Xinjiang Jinshengwang Agriculture and Science Technology Co., Ltd, Tacheng 834700, China.
Yue T; Livestock Science and Technology Research and Extension Center of Tangcheng Area, Tacheng 834700, China.
Lu ZX; Xinjiang Jinshengwang Agriculture and Science Technology Co., Ltd, Tacheng 834700, China.
Huang XX; College of Animal Science, Xinjiang Agricultural University, Urumqi 830052, China.
Wei XP; Xinjiang Hutubi Cattle Farm Co., Ltd, Changji 831100, China.
Feng ST; Insititute of Animal Scienece, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Chen J; Animal Husbandry Service of Xinjiang Uygur Autonomous Region, Urumqi 830009, China.
Kagedeer WL; Animal Husbandry Service of Xinjiang Uygur Autonomous Region, Urumqi 830009, China.
Abulizi R; Animal Husbandry Service of Xinjiang Uygur Autonomous Region, Urumqi 830009, China.
Muhetaer N; Animal Husbandry Service of Xinjiang Uygur Autonomous Region, Urumqi 830009, China.
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Źródło :
Yi chuan = Hereditas [Yi Chuan] 2020 May 20; Vol. 42 (5), pp. 493-505.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Ke xue chu ban she Country of Publication: China NLM ID: 9436478 Publication Model: Print Cited Medium: Print ISSN: 0253-9772 (Print) Linking ISSN: 02539772 NLM ISO Abbreviation: Yi Chuan Subsets: MEDLINE
MeSH Terms :
Breeding*
Homozygote*
Polymorphism, Single Nucleotide*
Cattle/*genetics
Animals ; Genetic Background ; Genomics ; Inbreeding
Czasopismo naukowe
Tytuł :
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.
Autorzy :
Sumathipala DS; Department of Medical Genetics, Oslo University Hospital and University of Oslo.
Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo.
Larsen SM; Department of Paediatric Neurology, Division of Paediatric and Adolescent Medicine, Oslo University Hospital.
Barøy T; Department of Medical Genetics, Oslo University Hospital and University of Oslo.
Gamage TH; Department of Medical Genetics, Oslo University Hospital and University of Oslo.
Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo.
Strømme P; Department of Paediatric Neurology, Division of Paediatric and Adolescent Medicine, Oslo University Hospital.; Faculty of Medicine, University of Oslo, Oslo, Norway.
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2020 Apr; Vol. 29 (2), pp. 107-110.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin. Dysmorphol. Subsets: MEDLINE
MeSH Terms :
Homozygote*
Mutation*
Phenotype*
DNA-Binding Proteins/*genetics
Neurodevelopmental Disorders/*diagnosis
Neurodevelopmental Disorders/*genetics
Thumb/*abnormalities
Transcription Factors/*genetics
Brain/abnormalities ; Brain/diagnostic imaging ; Child ; Chromosome Banding ; Electroencephalography ; Facies ; Female ; Humans ; Magnetic Resonance Imaging ; Syndrome
Czasopismo naukowe
Tytuł :
Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia.
Autorzy :
Steel E; Central Lancashire Teaching Hospitals, Preston.
Hurst JA; Departments of Clinical Genetics.
Cullup T; Molecular Genetics, North East Thames Regional Genetics Service.
Calder A; Radiology.
Sivakumar B; Plastic Surgery.
Shah P; Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Wilson LC; Departments of Clinical Genetics.
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2020 Apr; Vol. 29 (2), pp. 73-80.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin. Dysmorphol. Subsets: MEDLINE
MeSH Terms :
Homozygote*
Mutation*
Siblings*
Hypoglycemia/*diagnosis
Hypoglycemia/*genetics
LDL-Receptor Related Proteins/*genetics
Syndactyly/*diagnosis
Syndactyly/*genetics
Child, Preschool ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Infant ; Male ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide ; Radiography ; Tomography, X-Ray Computed
SCR Disease Name :
Syndactyly Cenani Lenz type
Czasopismo naukowe
Tytuł :
Rapid identification of homozygosity and site of wild relative introgressions in wheat through chromosome-specific KASP genotyping assays.
Autorzy :
Grewal S; Nottingham BBSRC Wheat Research Centre, School of Biosciences, University of Nottingham, Loughborough, Leicestershire, UK.
Hubbart-Edwards S; Nottingham BBSRC Wheat Research Centre, School of Biosciences, University of Nottingham, Loughborough, Leicestershire, UK.
Yang C; Nottingham BBSRC Wheat Research Centre, School of Biosciences, University of Nottingham, Loughborough, Leicestershire, UK.
Devi U; Nottingham BBSRC Wheat Research Centre, School of Biosciences, University of Nottingham, Loughborough, Leicestershire, UK.
Baker L; Nottingham BBSRC Wheat Research Centre, School of Biosciences, University of Nottingham, Loughborough, Leicestershire, UK.
Heath J; Nottingham BBSRC Wheat Research Centre, School of Biosciences, University of Nottingham, Loughborough, Leicestershire, UK.
Ashling S; Nottingham BBSRC Wheat Research Centre, School of Biosciences, University of Nottingham, Loughborough, Leicestershire, UK.
Scholefield D; Nottingham BBSRC Wheat Research Centre, School of Biosciences, University of Nottingham, Loughborough, Leicestershire, UK.
Howells C; Nottingham BBSRC Wheat Research Centre, School of Biosciences, University of Nottingham, Loughborough, Leicestershire, UK.
Yarde J; LGC Biosearch Technologies, Hoddesdon, Hertfordshire, UK.
Isaac P; IDna Genetics Ltd., Norwich Research Park, Norwich, UK.
King IP; Nottingham BBSRC Wheat Research Centre, School of Biosciences, University of Nottingham, Loughborough, Leicestershire, UK.
King J; Nottingham BBSRC Wheat Research Centre, School of Biosciences, University of Nottingham, Loughborough, Leicestershire, UK.
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Źródło :
Plant biotechnology journal [Plant Biotechnol J] 2020 Mar; Vol. 18 (3), pp. 743-755. Date of Electronic Publication: 2019 Sep 30.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley on behalf of the Society for Experimental Biology, Association of Applied Biologists Country of Publication: England NLM ID: 101201889 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1467-7652 (Electronic) Linking ISSN: 14677644 NLM ISO Abbreviation: Plant Biotechnol. J. Subsets: MEDLINE
MeSH Terms :
Chromosome Mapping*
Homozygote*
Plant Breeding*
Triticum/*genetics
Chromosomes, Plant/genetics ; Genotype ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł :
Genome-wide identification of runs of homozygosity islands in the Gyr breed (Bos indicus).
Autorzy :
Toro Ospina AM; Faculdade de Ciências Agrárias e Veterinárias, UNESP, Jaboticabal, Brazil.
da Silva Faria RA; Faculdade de Ciências Agrárias e Veterinárias, UNESP, Jaboticabal, Brazil.
Vercesi Filho AE; Instituto de Zootecnia, Nova Odessa, Brazil.
Cyrillo JNDSG; Instituto de Zootecnia, Sertãozinho, Brazil.
Zerlotti Mercadante ME; Instituto de Zootecnia, Sertãozinho, Brazil.
Curi RA; Faculdade de Medicina Veterinária e Zootecnia, UNESP, Botucatu, Brazil.
Ii de Vasconcelos Silva JA; Faculdade de Medicina Veterinária e Zootecnia, UNESP, Botucatu, Brazil.
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Źródło :
Reproduction in domestic animals = Zuchthygiene [Reprod Domest Anim] 2020 Mar; Vol. 55 (3), pp. 333-342. Date of Electronic Publication: 2020 Feb 05.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Paul Parey Scientific Publishers Country of Publication: Germany NLM ID: 9015668 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-0531 (Electronic) Linking ISSN: 09366768 NLM ISO Abbreviation: Reprod Domest Anim Subsets: MEDLINE
MeSH Terms :
Breeding*
Homozygote*
Cattle/*genetics
Animals ; Cattle/growth & development ; Dairying ; Female ; Genotype ; Inbreeding ; Lactation/genetics ; Male ; Phenotype
Czasopismo naukowe
Tytuł :
Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study.
Autorzy :
Reiman EM; Banner Alzheimer's Institute and Arizona Alzheimer's Consortium, 901 E Willetta Street, Phoenix, AZ, 85006, USA. .; University of Arizona, 714 E Van Buren Street, Phoenix, AZ, 85006, USA. .; Arizona State University, 522 N Central Avenue, Phoenix, AZ, 85004, USA. .; Neurogenomics Division, Translational Genomics Research Institute and Arizona Alzheimer's Consortium, 445 N Fifth Street, Phoenix, AZ, 85004, USA. .
Arboleda-Velasquez JF; Schepens Eye Research Institute of Mass Eye and Ear and the Department of Ophthalmology at Harvard Medical School, 20 Staniford Street, Boston, MA, 02114, USA.
Quiroz YT; Departments of Psychiatry and Neurology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, Boston, MA, 02114, USA.
Huentelman MJ; Neurogenomics Division, Translational Genomics Research Institute and Arizona Alzheimer's Consortium, 445 N Fifth Street, Phoenix, AZ, 85004, USA.
Beach TG; Banner Alzheimer's Institute and Arizona Alzheimer's Consortium, 901 E Willetta Street, Phoenix, AZ, 85006, USA.
Caselli RJ; Mayo Clinic, 13400 E Shea Boulevard, Scottsdale, AZ, 85259, USA.
Chen Y; Banner Alzheimer's Institute and Arizona Alzheimer's Consortium, 901 E Willetta Street, Phoenix, AZ, 85006, USA.
Su Y; Banner Alzheimer's Institute and Arizona Alzheimer's Consortium, 901 E Willetta Street, Phoenix, AZ, 85006, USA.
Myers AJ; Department of Psychiatry and Behavioral Science, University of Miami Miller School of Medicine, 1120 NW 14th Street, Miami, FL, 33136, USA.
Hardy J; Department of Molecular Neuroscience, UCL, Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Paul Vonsattel J; New York Brain Bank and Department of Pathology, New York-Presbyterian Hospital at Columbia University Medical Center, 630 West 168th Street, New York, NY, 10032, USA.
Younkin SG; Departments of Neuroscience and Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.
Bennett DA; Departments of Neurological Sciences and Pathology (Neuropathology), and Rush Alzheimer's Disease Center, Rush University Medical Center, 1725 W Harrison Street, Chicago, IL, 60612, USA.
De Jager PL; Department of Neurology, Center for Translational and Computational Neuroimmunology, Columbia University Medical Center, 710 West 168th Street, New York, NY, 10032, USA.
Larson EB; Kaiser Permanente Washington Health Research Institute, 1730 Minor Avenue, Seattle, WA, 98101, USA.
Crane PK; Department of Medicine, University of Washington, 1959 NE Pacific Street, Seattle, WA, 98198, USA.
Keene CD; Department of Pathology, University of Washington, 1959 NE Pacific Street, Seattle, WA, 98198, USA.
Kamboh MI; Department of Human Genetics, Alzheimer's Disease Research Center, University of Pittsburgh, 200 Lothrop Street, Pittsburgh, PA, 15213, USA.
Kofler JK; Department of Pathology (Neuropathology), University of Pittsburgh, 200 Lothrop Street, Pittsburgh, PA, 15213, USA.
Duque L; Department of Neurology, University of Miami, 1120 NW 14th Street, Miami, FL, 33136, USA.
Gilbert JR; John P. Hussman Institute for Human Genomics, Department of Human Genetics, and Dr. John T. Macdonald Foundation, University of Miami, 1501 NW 10th Avenue, Miami, FL, 33136, USA.
Gwirtsman HE; Department of Psychiatry, Vanderbilt University, 1601 23rd Avenue South, Nashville, TN, 37212, USA.
Buxbaum JD; Departments of Psychiatry, Neuroscience and Genetics and Genomic Sciences, Mount Sinai School of Medicine, 1468 Madison Avenue, New York, NY, 10029, USA.
Dickson DW; Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.
Frosch MP; C.S. Kubik Laboratory for Neuropathology, Massachusetts General Hospital, 114 16th Street, Charlestown, MA, 02129, USA.
Ghetti BF; Department of Pathology and Laboratory Medicine, Indiana University, 340 West 10th Street, Indianapolis, IN, 46202, USA.
Lunetta KL; Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA, 02118, USA.
Wang LS; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, 3400 Spruce Street, Philadelphia, PA, 19104, USA.
Hyman BT; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, Boston, MA, 02114, USA.
Kukull WA; Department of Epidemiology, University of Washington, 1959 NE Pacific Street, Seattle, WA, 98195, USA.
Foroud T; Department of Medical and Molecular Genetics, Indiana University, 410W 10th Street, Indianapolis, IN, 46202, USA.
Haines JL; Institute for Computational Biology and Department of Population and Quantitative Health Sciences, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH, 44106, USA.
Mayeux RP; Taub Institute on Alzheimer's Disease and the Aging Brain, Gertrude H. Sergievsky Center Department of Neurology, Columbia University, 710 West 168th Street, New York, NY, 10032, USA.
Pericak-Vance MA; John P. Hussman Institute for Human Genomics, Department of Human Genetics, and Dr. John T. Macdonald Foundation, University of Miami, 1501 NW 10th Avenue, Miami, FL, 33136, USA.
Schneider JA; Departments of Neurological Sciences and Pathology (Neuropathology), and Rush Alzheimer's Disease Center, Rush University Medical Center, 1725 W Harrison Street, Chicago, IL, 60612, USA.
Trojanowski JQ; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, 3400 Spruce Street, Philadelphia, PA, 19104, USA.
Farrer LA; Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA, 02118, USA.; Biomedical Genetics Section, Department of Medicine, Boston University School of Medicine, 72 East Concord Street, Boston, MA, 02118, USA.; Department of Neurology, Boston University School of Medicine, 72 East Concord Street, Boston, MA, 02118, USA.; Department of Epidemiology, Boston University School of Public Health, 715 Albany Street, Boston, MA, 02118, USA.
Schellenberg GD; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, 3400 Spruce Street, Philadelphia, PA, 19104, USA.
Beecham GW; John P. Hussman Institute for Human Genomics, Department of Human Genetics, and Dr. John T. Macdonald Foundation, University of Miami, 1501 NW 10th Avenue, Miami, FL, 33136, USA.
Montine TJ; Department of Pathology, Stanford University, 300 Pasteur Drive, Stanford, CA, 94305, USA.
Jun GR; Biomedical Genetics Section, Department of Medicine, Boston University School of Medicine, 72 East Concord Street, Boston, MA, 02118, USA.
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Corporate Authors :
Alzheimer’s Disease Genetics Consortium
Źródło :
Nature communications [Nat Commun] 2020 Feb 03; Vol. 11 (1), pp. 667. Date of Electronic Publication: 2020 Feb 03.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
MeSH Terms :
Homozygote*
Alzheimer Disease/*genetics
Apolipoprotein E2/*genetics
Genetic Predisposition to Disease/*genetics
Aged ; Aged, 80 and over ; Alleles ; Alzheimer Disease/metabolism ; Apolipoprotein E2/metabolism ; Apolipoprotein E3/genetics ; Apolipoprotein E4/genetics ; Brain/metabolism ; Female ; Genetic Association Studies ; Genotype ; Humans ; Male ; Middle Aged ; Neuropathology ; Probability
Czasopismo naukowe
Tytuł :
A novel homozygous mutation in TREM2 found in a Chinese early-onset dementia family with mild bone involvement.
Autorzy :
Li X; Department of Neurology, Huashan Hospital, Shanghai, China; Department of Critinal Care Medicine, Huashan Hospital, Shanghai, China.
Sun Y; Department of Neurology, Huashan Hospital, Shanghai, China.
Gong L; Department of Neurology, Huashan Hospital, Shanghai, China.
Zheng L; Department of Neurology, Huashan Hospital, Shanghai, China.
Chen K; Department of Neurology, Huashan Hospital, Shanghai, China.
Zhou Y; Department of Neurology, Huashan Hospital, Shanghai, China.
Gu Y; Department of Neurology, Huashan Hospital, Shanghai, China.
Xu Y; Department of Orthopedics, Huashan Hospital, Shanghai, China.
Guo Q; Department of Neurology, Huashan Hospital, Shanghai, China; National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai, China.
Hong Z; Department of Neurology, Huashan Hospital, Shanghai, China; National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai, China.
Ding D; Department of Neurology, Huashan Hospital, Shanghai, China; National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai, China.
Fu J; Department of Neurology, Huashan Hospital, Shanghai, China.
Zhao Q; Department of Neurology, Huashan Hospital, Shanghai, China; National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai, China. Electronic address: .
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Źródło :
Neurobiology of aging [Neurobiol Aging] 2020 Feb; Vol. 86, pp. 201.e1-201.e7. Date of Electronic Publication: 2019 Jan 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Elsevier Country of Publication: United States NLM ID: 8100437 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-1497 (Electronic) Linking ISSN: 01974580 NLM ISO Abbreviation: Neurobiol. Aging Subsets: MEDLINE
MeSH Terms :
Genetic Association Studies*
Homozygote*
Mutation*
Asian Continental Ancestry Group/*genetics
Bone Cysts/*complications
Frontotemporal Dementia/*genetics
Membrane Glycoproteins/*genetics
Receptors, Immunologic/*genetics
Adult ; Frontotemporal Dementia/complications ; Humans ; Male
Czasopismo naukowe
Tytuł :
Genetic and phenotypic analysis of a rare asymptomatic case of a homozygous Chinese -thalassemia deletion in a Chinese family.
Autorzy :
Du L; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China.
Qin D; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China.
Wang J; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China.
Yu L; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China.
Yao C; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China.
Liu L; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China.
Zhang Y; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China.
Hu T; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China.
Yuan T; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China.
Liang J; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China.
Yin A; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China. Electronic address: .
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Źródło :
Clinical biochemistry [Clin Biochem] 2020 Feb; Vol. 76, pp. 11-16. Date of Electronic Publication: 2019 Nov 22.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Elsevier Science Country of Publication: United States NLM ID: 0133660 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2933 (Electronic) Linking ISSN: 00099120 NLM ISO Abbreviation: Clin. Biochem. Subsets: MEDLINE
MeSH Terms :
Gene Deletion*
Homozygote*
Phenotype*
Thalassemia/*genetics
Adult ; China ; Female ; Humans ; Male ; Mutation ; Pregnancy
Czasopismo naukowe
Tytuł :
Additive Diagnostic Yield of Homozygosity Regions Identified During Chromosomal microarray Testing in Children with Developmental Delay, Dysmorphic Features or Congenital Anomalies.
Autorzy :
Ali MAM; Department of Biochemistry, Faculty of Science, Ain Shams University, Abbassia, Cairo, 11566, Egypt. .
Hassan AM; Human Cytogenetics Department, National Research Center, Cairo, Egypt.
Saafan MA; Cytogenetics Unit, Al Borg Medical Laboratories, Jeddah, Kingdom of Saudi Arabia.
Abdelmagid AA; Cytogenetics Unit, Al Borg Medical Laboratories, Jeddah, Kingdom of Saudi Arabia.
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Źródło :
Biochemical genetics [Biochem Genet] 2020 Feb; Vol. 58 (1), pp. 74-101. Date of Electronic Publication: 2019 Jul 04.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0126611 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4927 (Electronic) Linking ISSN: 00062928 NLM ISO Abbreviation: Biochem. Genet. Subsets: MEDLINE
MeSH Terms :
Homozygote*
Down Syndrome/*diagnosis
Klinefelter Syndrome/*diagnosis
Trisomy 13 Syndrome/*diagnosis
Trisomy 18 Syndrome/*diagnosis
Turner Syndrome/*diagnosis
Adolescent ; Child ; Child, Preschool ; Chromosome Breakage ; Cohort Studies ; DNA Copy Number Variations ; Developmental Disabilities/genetics ; Down Syndrome/genetics ; Female ; Humans ; Infant ; Infant, Newborn ; Klinefelter Syndrome/genetics ; Male ; Oligonucleotide Array Sequence Analysis/methods ; Trisomy 13 Syndrome/genetics ; Trisomy 18 Syndrome/genetics ; Turner Syndrome/genetics
Czasopismo naukowe
Tytuł :
How to study runs of homozygosity using PLINK? A guide for analyzing medium density SNP data in livestock and pet species.
Autorzy :
Meyermans R; Department of Biosystems, Livestock Genetics, KU Leuven, Kasteelpark Arenberg 30 - Box 2472, 3001, Leuven, Belgium.
Gorssen W; Department of Biosystems, Livestock Genetics, KU Leuven, Kasteelpark Arenberg 30 - Box 2472, 3001, Leuven, Belgium.
Buys N; Department of Biosystems, Livestock Genetics, KU Leuven, Kasteelpark Arenberg 30 - Box 2472, 3001, Leuven, Belgium.
Janssens S; Department of Biosystems, Livestock Genetics, KU Leuven, Kasteelpark Arenberg 30 - Box 2472, 3001, Leuven, Belgium. .
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Źródło :
BMC genomics [BMC Genomics] 2020 Jan 29; Vol. 21 (1), pp. 94. Date of Electronic Publication: 2020 Jan 29.
Typ publikacji :
Journal Article
Journal Info :
Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE
MeSH Terms :
Homozygote*
Polymorphism, Single Nucleotide*
Livestock/*genetics
Pets/*genetics
Alleles ; Animals ; Gene Frequency ; Genetic Testing ; Genetics, Population ; Genotype ; Inbreeding ; Linkage Disequilibrium
Czasopismo naukowe
Tytuł :
Serum levels of miR-199a-5p correlates with blood pressure in premature cardiovascular disease patients homozygous for the MTHFR 677C > T polymorphism.
Autorzy :
Lynch SM; Genomic Medicine Research Group, Biomedical Sciences Research Institute, Ulster University, Cromore Road, Coleraine BT52 1SA, Northern Ireland, UK.
Ward M; Nutrition Innovation Centre for Food and Health (NICHE), Biomedical Sciences Research Institute, Ulster University, Cromore Road, Coleraine BT52 1SA, Northern Ireland, UK.
McNulty H; Nutrition Innovation Centre for Food and Health (NICHE), Biomedical Sciences Research Institute, Ulster University, Cromore Road, Coleraine BT52 1SA, Northern Ireland, UK.
Angel CZ; Genomic Medicine Research Group, Biomedical Sciences Research Institute, Ulster University, Cromore Road, Coleraine BT52 1SA, Northern Ireland, UK.
Horigan G; Nutrition Innovation Centre for Food and Health (NICHE), Biomedical Sciences Research Institute, Ulster University, Cromore Road, Coleraine BT52 1SA, Northern Ireland, UK.
Strain JJ; Nutrition Innovation Centre for Food and Health (NICHE), Biomedical Sciences Research Institute, Ulster University, Cromore Road, Coleraine BT52 1SA, Northern Ireland, UK.
Purvis J; Department of Cardiology, Altnagelvin Area Hospital, Western Health and Social Care Trust, Derry, Northern Ireland, UK.
Tackett M; Abcam, One Kendall Square Suite B2304, Cambridge, MA 02139, USA.
McKenna DJ; Genomic Medicine Research Group, Biomedical Sciences Research Institute, Ulster University, Cromore Road, Coleraine BT52 1SA, Northern Ireland, UK. Electronic address: .
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Źródło :
Genomics [Genomics] 2020 Jan; Vol. 112 (1), pp. 669-676. Date of Electronic Publication: 2019 Apr 25.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Academic Press Country of Publication: United States NLM ID: 8800135 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1089-8646 (Electronic) Linking ISSN: 08887543 Subsets: MEDLINE
MeSH Terms :
Gene Expression Regulation*
Homozygote*
Hypertension*/blood
Hypertension*/genetics
Hypertension*/pathology
Hypertension*/physiopathology
Polymorphism, Genetic*
Blood Pressure/*genetics
Methylenetetrahydrofolate Reductase (NADPH2)/*genetics
MicroRNAs/*blood
Female ; Genotype ; Human Umbilical Vein Endothelial Cells/metabolism ; Human Umbilical Vein Endothelial Cells/pathology ; Humans ; Male ; Methylenetetrahydrofolate Reductase (NADPH2)/metabolism ; MicroRNAs/genetics ; Middle Aged ; Risk Factors
Czasopismo naukowe
Tytuł :
Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility.
Autorzy :
Liu C; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China.; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China.; State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China.; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Lv M; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China.; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China.
He X; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China.; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China.
Zhu Y; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China.
Amiri-Yekta A; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, INSERM U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.; Centre Hospitalier Universitaire de Grenoble, UM GI-DPI, Grenoble, France.; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, Academic Center for Education, Culture, and Research, Tehran, Iran.
Li W; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China.; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China.; State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China.
Wu H; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China.; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China.
Kherraf ZE; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, INSERM U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.; Centre Hospitalier Universitaire de Grenoble, UM GI-DPI, Grenoble, France.
Liu W; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China.; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China.; State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China.
Zhang J; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China.; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China.
Tan Q; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China.; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China.
Tang S; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China.; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China.; State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China.
Zhu YJ; Department of Thoracic Surgery, Huashan Hospital, Fudan University, Shanghai, China.
Zhong Y; Department of Radiology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Li C; Genesky Biotechnologies Inc, Shanghai, China.
Tian S; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China.
Zhang Z; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China.; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China.
Jin L; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China.
Ray P; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, INSERM U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.; Centre Hospitalier Universitaire de Grenoble, UM GI-DPI, Grenoble, France.
Zhang F; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China .; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China.; State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China.; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Cao Y; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China .; Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China.; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China.
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Źródło :
Journal of medical genetics [J Med Genet] 2020 Jan; Vol. 57 (1), pp. 31-37. Date of Electronic Publication: 2019 May 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J. Med. Genet. Subsets: MEDLINE
MeSH Terms :
Homozygote*
Mutation*
Cell Cycle Proteins/*genetics
Infertility, Male/*genetics
Sperm Tail/*metabolism
China ; DNA Mutational Analysis ; Humans ; Infertility, Male/metabolism ; Infertility, Male/pathology ; Iran ; Male ; Pedigree ; Sperm Tail/pathology ; Sperm Tail/ultrastructure ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.
Autorzy :
Sezer A
Kayhan G
Koç A
Ergün MA
Perçin FE
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Źródło :
Cytogenetic and genome research [Cytogenet Genome Res] 2020; Vol. 160 (6), pp. 309-315. Date of Electronic Publication: 2020 Jun 27.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet. Genome Res. Subsets: MEDLINE
MeSH Terms :
Homozygote*
Whole Exome Sequencing*
Abnormalities, Multiple/*genetics
Cataract/*congenital
Chromosomes, Human, Pair 2/*genetics
Cornea/*abnormalities
Hypogonadism/*genetics
Intellectual Disability/*genetics
Microcephaly/*genetics
Optic Atrophy/*genetics
Uniparental Disomy/*genetics
Adolescent ; Adult ; Cataract/genetics ; Female ; Humans ; Infant ; Loss of Heterozygosity/genetics ; Male ; Parents ; Polymorphism, Single Nucleotide/genetics ; rab3 GTP-Binding Proteins/genetics
SCR Disease Name :
Warburg Sjo Fledelius syndrome
Czasopismo naukowe
Tytuł :
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
Autorzy :
Khan S; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan.; Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK.; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Rawlins LE; Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK.
Harlalka GV; Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK.; Rajarshi Shahu College of Pharmacy, Malvihir Buldana, Maharashtra, Buldana, 443001, India.
Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), P.O. Box 3660, Riyadh, 11481, Kingdom of Saudi Arabia.
Ullah A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
Shahzad S; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan.
Javed M; National Institute for Genomics & Advanced Biotechnology, NARC, Islamabad, 45500, Pakistan.
Baple EL; Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK.
Crosby AH; Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK.
Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Gul A; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan. .
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Źródło :
BMC medical genetics [BMC Med Genet] 2019 Dec 18; Vol. 20 (1), pp. 199. Date of Electronic Publication: 2019 Dec 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med. Genet. Subsets: MEDLINE
MeSH Terms :
Homozygote*
Acyltransferases/*genetics
Membrane Proteins/*genetics
Nervous System Diseases/*genetics
beta-Hexosaminidase beta Chain/*genetics
Consanguinity ; Electroencephalography ; Female ; Genes, Recessive ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Mutation ; Nervous System Diseases/diagnostic imaging ; Nervous System Diseases/physiopathology ; Pakistan ; Polymorphism, Single Nucleotide ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
CDKN2A homozygous deletion is a strong adverse prognosis factor in diffuse malignant IDH-mutant gliomas.
Autorzy :
Appay R; Department of Pathological Anatomy and Neuropathology, Timone Hospital, Public Assistance-Marseille Hospitals (APHM), Marseille, France.; Aix-Marseille University, Scientific Research National Center (CNRS), Institute of Neurophysiopathology, Marseille, France.
Dehais C; Department of Neurology 2-Mazarin, Public Assistance-Paris Hospitals (APHP), University Hospital Pitié Salpêtrière-Charles Foix, Paris, France.
Maurage CA; Department of Neurology 2-Mazarin, Public Assistance-Paris Hospitals (APHP), University Hospital Pitié Salpêtrière-Charles Foix, Paris, France.
Alentorn A; Department of Neurology 2-Mazarin, Public Assistance-Paris Hospitals (APHP), University Hospital Pitié Salpêtrière-Charles Foix, Paris, France.
Carpentier C; Sorbonne University, National Institute of Health and Medical Research (Inserm), CNRS, Brain and Spinal Cord Institute, University Hospitals of Pitié Salpêtrière-Charles Foix, Department of Neurology 2-Mazarin, Paris, France.
Colin C; Aix-Marseille University, Scientific Research National Center (CNRS), Institute of Neurophysiopathology, Marseille, France.
Ducray F; Department of Neuro-Oncology, Civil Hospices of Lyon, Pierre Wertheimer Hospital, Bron, France.; Department of Cancer Cell Plasticity, Cancer Research Center of Lyon, Lyon, France.
Escande F; Department of Pathology, Lille University Hospital, Lille, France.
Idbaih A; Department of Neurology 2-Mazarin, Public Assistance-Paris Hospitals (APHP), University Hospital Pitié Salpêtrière-Charles Foix, Paris, France.; Sorbonne University, National Institute of Health and Medical Research (Inserm), CNRS, Brain and Spinal Cord Institute, University Hospitals of Pitié Salpêtrière-Charles Foix, Department of Neurology 2-Mazarin, Paris, France.
Kamoun A; Tumor Identity Card Program, National League Against Cancer, Paris, France.
Marie Y; Sorbonne University, National Institute of Health and Medical Research (Inserm), CNRS, Brain and Spinal Cord Institute, University Hospitals of Pitié Salpêtrière-Charles Foix, Department of Neurology 2-Mazarin, Paris, France.
Mokhtari K; Sorbonne University, National Institute of Health and Medical Research (Inserm), CNRS, Brain and Spinal Cord Institute, University Hospitals of Pitié Salpêtrière-Charles Foix, Department of Neurology 2-Mazarin, Paris, France.; Department of Neurology, Raymond Escourolle Neuropathology Service, University Hospitals of Pitié Salpêtrière-Charles Foix, APHP, Paris, France.
Tabouret E; Aix-Marseille University, Scientific Research National Center (CNRS), Institute of Neurophysiopathology, Marseille, France.; Department of Neuro-Oncology, Timone Hospital, APHM, Marseille, France.
Trabelsi N; Sorbonne University, National Institute of Health and Medical Research (Inserm), CNRS, Brain and Spinal Cord Institute, University Hospitals of Pitié Salpêtrière-Charles Foix, Department of Neurology 2-Mazarin, Paris, France.
Uro-Coste E; Department of Pathological Anatomy and Histology-Cytology, Rangueil Hospital, Toulouse, France.; Center for Research in Cancerology, Inserm U1037, University of Toulouse, Toulouse, France.
Delattre JY; Aix-Marseille University, Scientific Research National Center (CNRS), Institute of Neurophysiopathology, Marseille, France.; Sorbonne University, National Institute of Health and Medical Research (Inserm), CNRS, Brain and Spinal Cord Institute, University Hospitals of Pitié Salpêtrière-Charles Foix, Department of Neurology 2-Mazarin, Paris, France.
Figarella-Branger D; Department of Pathological Anatomy and Neuropathology, Timone Hospital, Public Assistance-Marseille Hospitals (APHM), Marseille, France.; Aix-Marseille University, Scientific Research National Center (CNRS), Institute of Neurophysiopathology, Marseille, France.
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Corporate Authors :
POLA Network
Źródło :
Neuro-oncology [Neuro Oncol] 2019 Dec 17; Vol. 21 (12), pp. 1519-1528.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Oxford University Press Country of Publication: England NLM ID: 100887420 Publication Model: Print Cited Medium: Internet ISSN: 1523-5866 (Electronic) Linking ISSN: 15228517 NLM ISO Abbreviation: Neuro-oncology Subsets: MEDLINE
MeSH Terms :
Homozygote*
Mutation*
Sequence Deletion*
Cyclin-Dependent Kinase Inhibitor p16/*genetics
Glioma/*pathology
Isocitrate Dehydrogenase/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor/genetics ; Brain Neoplasms/genetics ; Brain Neoplasms/pathology ; Brain Neoplasms/therapy ; Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 19/genetics ; Cohort Studies ; Combined Modality Therapy ; Female ; Follow-Up Studies ; Glioma/genetics ; Glioma/therapy ; Humans ; Male ; Middle Aged ; Prognosis ; Survival Rate ; Young Adult
Czasopismo naukowe
Tytuł :
Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation.
Autorzy :
Zupan A; Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
Fakin A; Eye Hospital, University Medical Centre Ljubljana, Grablovičeva 46, 1000 Ljubljana, Slovenia.
Battelino S; Department of Otorhinolaryngology and Cervicofacial Surgery, University Medical Centre, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
Jarc-Vidmar M; Eye Hospital, University Medical Centre Ljubljana, Grablovičeva 46, 1000 Ljubljana, Slovenia.
Hawlina M; Eye Hospital, University Medical Centre Ljubljana, Grablovičeva 46, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
Bonnet C; Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, 75015 Paris, France.; Unité Mixte de Recherche en Santé (UMRS) 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), 75015 Paris, France.; Complexité du Vivant, Sorbonne Universités, Université Pierre et Marie Curie, Université Paris 06, 75005 Paris, France.; Institut de l'Audition, 75012 Paris, France.; Syndrome de Usher et Autres Atteintes Rétino-Cochléaires, Institut de la Vision, 75012 Paris, France.
Petit C; Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, 75015 Paris, France.; Unité Mixte de Recherche en Santé (UMRS) 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), 75015 Paris, France.; Complexité du Vivant, Sorbonne Universités, Université Pierre et Marie Curie, Université Paris 06, 75005 Paris, France.; Institut de l'Audition, 75012 Paris, France.; Syndrome de Usher et Autres Atteintes Rétino-Cochléaires, Institut de la Vision, 75012 Paris, France.; Collège de France, 75005 Paris, France.
Glavač D; Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
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Źródło :
Genes [Genes (Basel)] 2019 Dec 05; Vol. 10 (12). Date of Electronic Publication: 2019 Dec 05.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
MeSH Terms :
Codon, Nonsense*
Haplotypes*
Homozygote*
Night Blindness*/genetics
Night Blindness*/metabolism
Night Blindness*/mortality
Night Blindness*/pathology
Extracellular Matrix Proteins/*genetics
Adolescent ; Adult ; Child ; Disease-Free Survival ; Female ; Humans ; Male ; Slovenia/epidemiology ; Survival Rate
Czasopismo naukowe
Tytuł :
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Autorzy :
Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14665, Iran.
Szenker-Ravi E; Institute of Medical Biology, Agency for Science, Technology, and Research, 8A Biomedical Grove, Singapore 138648, Republic of Singapore.
Lekszas C; Institute of Human Genetics, Julius-Maximilians-Universität, 97074 Würzburg, Germany.
Tajsharghi H; School of Health Sciences, Division Biomedicine, University of Skövde, 54128 Skövde, Sweden.
Moslemi AR; Institute of Biomedicine, Sahlgrenska University Hospital, Gothenburg University, 41390 Gothenburg, Sweden.
Naert T; Department of Biomedical Molecular Biology, Ghent University, B-9052 Ghent, Belgium.
Tran HT; Department of Biomedical Molecular Biology, Ghent University, B-9052 Ghent, Belgium.
Ahangari F; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14665, Iran.
Rajaei M; Fertility and Infertility Research Center, Hormozgan University of Medical Sciences, Bandar Abbas 7919915519, Iran.
Nasseri M; Pardis Clinical and Genetics Laboratory, Mashhad 9177948974, Iran.
Haaf T; Institute of Human Genetics, Julius-Maximilians-Universität, 97074 Würzburg, Germany.
Azad A; Fertility and Infertility Research Center, Hormozgan University of Medical Sciences, Bandar Abbas 7919915519, Iran.
Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV), University of Lausanne, 1011 Lausanne, Switzerland.
Maroofian R; Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.
Ghaderi-Sohi S; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14665, Iran.
Najmabadi H; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14665, Iran; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran 1985713834, Iran.
Abbaszadegan MR; Pardis Clinical and Genetics Laboratory, Mashhad 9177948974, Iran; Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, Mashhad University of Medical Sciences, Mashhad 15731, Iran.
Vleminckx K; Department of Biomedical Molecular Biology, Ghent University, B-9052 Ghent, Belgium.
Nikuei P; Fertility and Infertility Research Center, Hormozgan University of Medical Sciences, Bandar Abbas 7919915519, Iran. Electronic address: .
Reversade B; Institute of Medical Biology, Agency for Science, Technology, and Research, 8A Biomedical Grove, Singapore 138648, Republic of Singapore; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; Department of Medical Genetics, Koç University, School of Medicine, 34010 Topkapı, Istanbul, Turkey. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2019 Dec 05; Vol. 105 (6), pp. 1294-1301. Date of Electronic Publication: 2019 Nov 21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Homozygote*
Loss of Function Mutation*
Abnormalities, Multiple/*etiology
Bone Diseases, Developmental/*etiology
Ectromelia/*etiology
Hip/*abnormalities
Ischium/*abnormalities
Lung/*abnormalities
Lung Diseases/*etiology
Patella/*abnormalities
Pelvis/*abnormalities
T-Box Domain Proteins/*genetics
Abnormalities, Multiple/pathology ; Adolescent ; Bone Diseases, Developmental/pathology ; Child ; Ectromelia/pathology ; Female ; Hip/pathology ; Humans ; Ischium/pathology ; Lung/pathology ; Lung Diseases/pathology ; Male ; Patella/pathology ; Pedigree ; Pelvis/pathology ; Prognosis
SCR Disease Name :
Ischiopatellar dysplasia; Lung agenesis
Czasopismo naukowe
Tytuł :
Runs of Homozygosity and NetView analyses provide new insight into the genome-wide diversity and admixture of three German cattle breeds.
Autorzy :
Addo S; Institute of Animal Breeding and Husbandry, Kiel University, Kiel, Germany.; Department of Animal Breeding, University of Kassel, Witzenhausen, Germany.
Klingel S; Center for Rare and Endangered Domestic Animals, Arche Warder, Warder, Germany.
Hinrichs D; Department of Animal Breeding, University of Kassel, Witzenhausen, Germany.
Thaller G; Institute of Animal Breeding and Husbandry, Kiel University, Kiel, Germany.
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Źródło :
PloS one [PLoS One] 2019 Dec 04; Vol. 14 (12), pp. e0225847. Date of Electronic Publication: 2019 Dec 04 (Print Publication: 2019).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS ONE Subsets: MEDLINE
MeSH Terms :
Breeding*
Genetic Variation*
Genome*
Genome-Wide Association Study*/methods
Genomics*/methods
Homozygote*
Software*
Algorithms ; Animals ; Cattle ; Evolution, Molecular ; Genetics, Population ; Genotype ; Germany ; Inbreeding ; Linkage Disequilibrium ; Models, Genetic ; Polymorphism, Single Nucleotide
Czasopismo naukowe

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