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Tytuł:
Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.
Autorzy:
Goyal S; Department of Human Genetics, Guru Nanak Dev University (GNDU), Amritsar, 143005, Punjab, India.
Singh R; Dr. Daljit, Singh Eye Hospital, Amritsar, 143001, Punjab, India.
Singh JR; Department of Human Genetics, Guru Nanak Dev University (GNDU), Amritsar, 143005, Punjab, India.
Vanita V; Department of Human Genetics, Guru Nanak Dev University (GNDU), Amritsar, 143005, Punjab, India. vanita_.
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Źródło:
BMC genomics [BMC Genomics] 2024 Jan 04; Vol. 25 (1), pp. 31. Date of Electronic Publication: 2024 Jan 04.
Typ publikacji:
Journal Article
MeSH Terms:
Cataract*/genetics
Connexins*/genetics
Eye Proteins*/genetics
Membrane Proteins*/genetics
Humans ; DNA Mutational Analysis ; Mutation ; Pedigree ; Phenotype
SCR Disease Name:
Cataract, Coppock-Like
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation.
Autorzy:
Jiang L; Department of Orthopedics, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, N1# Shangcheng Road, Yiwu, 322000, Zhejiang Province, China.
Wang C; Department of Orthopedics, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, N1# Shangcheng Road, Yiwu, 322000, Zhejiang Province, China.; Key Laboratory of Motor System Disease Research and Precision Therapy of Zhejiang Province, Hangzhou City, Zhejiang Province, China.; Orthopedics Research Institute of Zhejiang University, Hangzhou City, Zhejiang Province, China.
Ye Z; Department of Orthopedic Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China. .; Key Laboratory of Motor System Disease Research and Precision Therapy of Zhejiang Province, Hangzhou City, Zhejiang Province, China. .; Orthopedics Research Institute of Zhejiang University, Hangzhou City, Zhejiang Province, China. .
Hu Q; Department of Orthopedics, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, N1# Shangcheng Road, Yiwu, 322000, Zhejiang Province, China. .
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Źródło:
Journal of orthopaedic surgery and research [J Orthop Surg Res] 2024 Jan 03; Vol. 19 (1), pp. 19. Date of Electronic Publication: 2024 Jan 03.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Collagen Type IX*/genetics
Intervertebral Disc Degeneration*/pathology
Intervertebral Disc Displacement*/diagnostic imaging
Intervertebral Disc Displacement*/genetics
Adolescent ; Humans ; Male ; Lumbar Vertebrae/diagnostic imaging ; Lumbar Vertebrae/pathology ; Mutation ; Pedigree ; Spine
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.
Autorzy:
Zheng K; Laboratory of Molecular Medicine, Institute of Maternal and Child Medicine, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, China.
Lin S; Shenzhen Health Development Research and Data Management Center, Shenzhen, China.
Gao J; Laboratory of Molecular Medicine, Institute of Maternal and Child Medicine, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, China.
Chen S; Laboratory of Molecular Medicine, Institute of Maternal and Child Medicine, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, China.
Su J; Laboratory of Molecular Medicine, Institute of Maternal and Child Medicine, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, China.
Liu Z; Shenzhen Health Development Research and Data Management Center, Shenzhen, China.
Duan S; Laboratory of Molecular Medicine, Institute of Maternal and Child Medicine, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2024 Jan 02; Vol. 17 (1), pp. 4. Date of Electronic Publication: 2024 Jan 02.
Typ publikacji:
Journal Article
MeSH Terms:
Deafness*/genetics
Hearing Loss, Sensorineural*/genetics
Humans ; Myosins/genetics ; Genes, Recessive ; Pedigree ; Mutation
SCR Disease Name:
Nonsyndromic Deafness
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree.
Autorzy:
Li L; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Qu X; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Cui C; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Feng K; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Xia Y; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Wan F; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Ge H; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Fang Y; Department of Reproductive Medicine Center, Zhengzhou University People's Hospital, Zhengzhou, Henan, China.
Zhang C; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Guo H; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2364.
Typ publikacji:
Journal Article
MeSH Terms:
Infertility, Male*/genetics
Cystic Fibrosis*/genetics
Cystic Fibrosis*/pathology
Male Urogenital Diseases*
Humans ; Male ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Pedigree ; Semen ; Mutation ; Vas Deferens/abnormalities ; China
SCR Disease Name:
Congenital bilateral aplasia of vas deferens
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1.
Autorzy:
Stanbury K; Kennel Club Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge, United Kingdom.
Stavinohova R; Lumbry Park Veterinary Specialists, Hampshire, United Kingdom.
Pettitt L; Kennel Club Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge, United Kingdom.
Dixon C; Veterinary Vision, Cumbria, United Kingdom.
Schofield EC; Kennel Club Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge, United Kingdom.
Mclaughlin B; Kennel Club Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge, United Kingdom.
Pettinen I; Department of Veterinary Biosciences, Department of Medical and Clinical Genetics, University of Helsinki and Folkhälsan Research Center, Helsinki, Finland.
Lohi H; Department of Veterinary Biosciences, Department of Medical and Clinical Genetics, University of Helsinki and Folkhälsan Research Center, Helsinki, Finland.
Ricketts SL; Kennel Club Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge, United Kingdom.
Oliver JA; Dick White Referrals, Cambridgeshire, United Kingdom.
Mellersh CS; Kennel Club Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge, United Kingdom.
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Źródło:
PloS one [PLoS One] 2023 Dec 28; Vol. 18 (12), pp. e0295851. Date of Electronic Publication: 2023 Dec 28 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Retinal Detachment*/genetics
Retinal Detachment*/veterinary
Retinal Detachment*/complications
Connective Tissue Diseases*/diagnosis
Cataract*/genetics
Cataract*/veterinary
Cataract*/complications
Humans ; Dogs ; Animals ; Mutation ; Collagen Type XI/genetics ; Pedigree
SCR Disease Name:
Stickler syndrome, type 1; Stickler syndrome, type 2
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy.
Autorzy:
Ghasemi S; Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
Mahdavi M; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Maleki M; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Salahshourifar I; Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
Kalayinia S; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2023 Dec 21; Vol. 16 (1), pp. 334. Date of Electronic Publication: 2023 Dec 21.
Typ publikacji:
Journal Article
MeSH Terms:
Cardiomyopathy, Dilated*/genetics
Humans ; Iran ; Heart ; Phenotype ; Death, Sudden, Cardiac ; Pedigree ; Mediator Complex/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
Autorzy:
AlAbdi L; Department of Zoology, Collage of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Khouj E; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Helaby R; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Aljamal B; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alqahtani M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Almulhim A; Department of Zoology, Collage of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hamid H; Department of Zoology, Collage of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Abouyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Jaafar A; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alshidi T; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Owain M; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Collage of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Alhashem A; Collage of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Pediatric Department, Division of Genetic and Metabolic Medicine, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.
Al Tala S; Pediatric Department, Neonatal Unit, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia.
Khan AO; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH, USA.
Mardawi E; Maternal Fetal Medicine, Security Forces Hospital Program, Riyadh, Saudi Arabia.
Alkuraya H; Vitreoretinal Surgery and Ocular Genetics, Global Eye Care/Specialized Medical Center Hospital, Riyadh, Saudi Arabia.
Faqeih E; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia.
Afqi M; Metabolic and Genetic Center, King Salman Bin Abdulaziz Medical City, Almadinah Almunwarah, Saudi Arabia.
Alkhalifi S; Newborn Screening, Ministry of Health, Eastern Province, Saudi Arabia.
Rahbeeni Z; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hagos ST; Department of Clinical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Ahmadi W; Department of Molecular Biomedicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Nadeef S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Maddirevula S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Khabar KSA; Department of Molecular Biomedicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Putra A; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Angelov A; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Park C; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Reyes-Ramos AM; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Umer H; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Ullah I; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Driguez P; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Fukasawa Y; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Cheung MS; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Gallouzi IE; KAUST Smart-Health Initiative King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Engineering (BESE) Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. .; KAUST Smart-Health Initiative King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia. .
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Źródło:
Genome medicine [Genome Med] 2023 Dec 14; Vol. 15 (1), pp. 114. Date of Electronic Publication: 2023 Dec 14.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*
Inheritance Patterns*
Infant, Newborn ; Humans ; Genes, Recessive ; Mutation ; Exome Sequencing ; Pedigree ; Eye Proteins/genetics ; Membrane Proteins/genetics ; Nuclear Proteins/genetics ; Protein Serine-Threonine Kinases/genetics ; Intracellular Signaling Peptides and Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean.
Autorzy:
Hwang S; Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, #81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.; Department of Clinical Research Design and Evaluation, Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Seoul, Republic of Korea.
Kang SW; Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, #81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.
Jang JH; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Kim SJ; Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, #81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea. .
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Źródło:
Scientific reports [Sci Rep] 2023 Dec 11; Vol. 13 (1), pp. 21877. Date of Electronic Publication: 2023 Dec 11.
Typ publikacji:
Journal Article
MeSH Terms:
Retinal Degeneration*/genetics
Retinal Dystrophies*/genetics
Humans ; Retrospective Studies ; Phenotype ; Genetic Testing ; Pedigree ; Republic of Korea ; Mutation ; AC133 Antigen/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Case report: Identification of a novel triplication of alpha-globin gene by the third-generation sequencing: pedigree analysis and genetic diagnosis.
Autorzy:
Chen Y; Dehong Medical Group Hospital of Traditional Chinese Medicine, Dehong Dai and Jingpo Autonomous Prefecture, People's Republic of China.
Xie T; Berry Genomics Corporation, Beijing, People's Republic of China.
Ma M; Berry Genomics Corporation, Beijing, People's Republic of China.
Yang J; Kunming Kingmed Institute for Clinical Laboratory, Kunming, People's Republic of China.
Lv Y; Department of Obstetrical, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, People's Republic of China.
Dong X; Department of Obstetrical, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, People's Republic of China.
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Źródło:
Hematology (Amsterdam, Netherlands) [Hematology] 2023 Dec; Vol. 28 (1), pp. 2277571. Date of Electronic Publication: 2023 Dec 07.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
beta-Thalassemia*/genetics
alpha-Thalassemia*/diagnosis
alpha-Thalassemia*/genetics
Male ; Female ; Humans ; Adult ; Pedigree ; alpha-Globins/genetics ; Reproducibility of Results ; Genotype ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review.
Autorzy:
Zhao T; Department of Endocrinology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Xu S; Department of Geriatrics, Zhejiang Provincial People's Hospital, Hangzhou, China.
Liu S; Department of Endocrinology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Xu J; Department of Endocrinology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Zhang X; Department of Endocrinology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Zhan Y; Department of Endocrinology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Dec; Vol. 11 (12), pp. e2276. Date of Electronic Publication: 2023 Sep 07.
Typ publikacji:
Review; Case Reports; Journal Article
MeSH Terms:
Brain Diseases*/genetics
Neurodegenerative Diseases*/genetics
Female ; Humans ; Young Adult ; Dysarthria/genetics ; Mutation ; Pedigree
SCR Disease Name:
Fahr's disease
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
Autorzy:
Zhang W; Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China.
Yao Z; Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Guo R; Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China.; Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children's Hospital, Zhengzhou Hospital of Beijing Children's Hospital, Zhengzhou, China.
Cao J; Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Li W; Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China.; Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children's Hospital, Zhengzhou Hospital of Beijing Children's Hospital, Zhengzhou, China.
Hao C; Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China. .; Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children's Hospital, Zhengzhou Hospital of Beijing Children's Hospital, Zhengzhou, China. .
Zhang X; Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Nov 30; Vol. 18 (1), pp. 371. Date of Electronic Publication: 2023 Nov 30.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Amelogenesis Imperfecta*/genetics
Amelogenesis Imperfecta*/surgery
Dwarfism*/genetics
Dwarfism*/surgery
Osteochondrodysplasias*/genetics
Osteochondrodysplasias*/surgery
Scoliosis*/genetics
Scoliosis*/surgery
Humans ; Homozygote ; Mutation/genetics ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hailey-Hailey Disease is Associated with Diabetes: A Population-based Cohort Study, Clinical Cohort Study, and Pedigree Analysis.
Autorzy:
Curman P; Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Stockholm, Sweden; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden. .
Jebril W; Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Stockholm, Sweden.
Evans-Molina C; Departments of Anatomy, Cell Biology, and Physiology; Biochemistry and Molecular Biology; Medicine; Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202; The Center for Diabetes and Metabolic Diseases, Indiana University School of Medicine, Indianapolis, IN 46202; Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202; Roudebush VA Medical Center, Indianapolis, IN 46202, USA.
Bachar-Wikstrom E; Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Stockholm, Sweden; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Larsson H; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Cederlöf M; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; School of Medical Sciences, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Wikström JD; Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Stockholm, Sweden.
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Źródło:
Acta dermato-venereologica [Acta Derm Venereol] 2023 Nov 28; Vol. 103, pp. adv10436. Date of Electronic Publication: 2023 Nov 28.
Typ publikacji:
Journal Article
MeSH Terms:
Pemphigus, Benign Familial*/diagnosis
Pemphigus, Benign Familial*/epidemiology
Pemphigus, Benign Familial*/genetics
Diabetes Mellitus, Type 2*/diagnosis
Diabetes Mellitus, Type 2*/epidemiology
Diabetes Mellitus, Type 2*/genetics
Male ; Humans ; Female ; Pedigree ; Cohort Studies ; Calcium-Transporting ATPases/genetics ; Calcium-Transporting ATPases/metabolism ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGR Genetic Variants.
Autorzy:
Bonetti G; MAGI's LAB, 38068 Rovereto, Italy.; Department of Pharmaceutical Sciences, University of Perugia, 06123 Perugia, Italy.
Cozza W; MAGI Euregio, 39100 Bolzano, Italy.
Bernini A; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.
Kaftalli J; MAGI Euregio, 39100 Bolzano, Italy.
Mareso C; MAGI Euregio, 39100 Bolzano, Italy.
Cristofoli F; MAGI Euregio, 39100 Bolzano, Italy.
Medori MC; MAGI's LAB, 38068 Rovereto, Italy.
Colombo L; Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of Milan, 20142 Milan, Italy.
Martella S; Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of Milan, 20142 Milan, Italy.
Staurenghi G; Eye Clinic, Department of Biomedical and Clinical Science, Luigi Sacco Hospital, University of Milan, 20157 Milan, Italy.
Salvetti AP; Eye Clinic, Department of Biomedical and Clinical Science, Luigi Sacco Hospital, University of Milan, 20157 Milan, Italy.
Falsini B; UOC Oculistica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Largo Gemelli 8, 00168 Rome, Italy.; Istituto di Oftalmologia, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168 Rome, Italy.
Placidi G; UOC Oculistica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Largo Gemelli 8, 00168 Rome, Italy.
Attanasio M; Ospedale Sacrocuore Don Calabria, Viale Luigi Rizzardi, 4, 37024 Negrar di Valpolicella, Italy.
Pertile G; Ospedale Sacrocuore Don Calabria, Viale Luigi Rizzardi, 4, 37024 Negrar di Valpolicella, Italy.
Bengala M; Medical Genetics Unit, Department of Oncohematology, Policlinico Tor Vergata, 00133 Rome, Italy.
Bosello F; Department of Surgical Sciences, Dentistry, Paediatrics and Gynaecology, Section of Ophthalmology, University of Verona, 37134 Verona, Italy.
Petracca A; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
D'Esposito F; MAGI Euregio, 39100 Bolzano, Italy.; Imperial College Ophthalmic Research Group (ICORG) Unit, Imperial College, London NW1 5QH, UK.; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, 80138 Naples, Italy.
Toschi B; Section of Medical Genetics, Department of Medical and Oncological Area, University Hospital of Pisa, 56126 Pisa, Italy.
Lanzetta P; Department of Medicine-Ophthalmology, University of Udine, 33100 Udine, Italy.; Istituto Europeo di Microchirurgia Oculare (IEMO), 33100 Udine, Italy.
Ricci F; Department of Experimental Medicine, Tor Vergata University of Rome, Viale Oxford, 00133 Rome, Italy.
Viola F; Department of Ophthalmology, Fondazione IRCCS Cà Granda, Clinica Regina Elena, 20122 Milan, Italy.
Marceddu G; MAGI Euregio, 39100 Bolzano, Italy.
Bertelli M; MAGI's LAB, 38068 Rovereto, Italy.; MAGI Euregio, 39100 Bolzano, Italy.; MAGISNAT, Atlanta Tech Park, 107 Technology Parkway, Peachtree Corners, GA 30092, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Nov 28; Vol. 24 (23). Date of Electronic Publication: 2023 Nov 28.
Typ publikacji:
Journal Article
MeSH Terms:
Cone Dystrophy*
Genetic Diseases, X-Linked*/genetics
Retinitis Pigmentosa*/diagnosis
Retinitis Pigmentosa*/genetics
Retinitis Pigmentosa*/metabolism
Humans ; Mutation ; Eye Proteins/genetics ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.
Autorzy:
Lewis MA; Wolfson Centre for Age-Related Diseases, King's College London, United Kingdom.; The Medical University of South Carolina, Charleston, South Carolina, United States of America.
Schulte J; The Medical University of South Carolina, Charleston, South Carolina, United States of America.
Matthews L; The Medical University of South Carolina, Charleston, South Carolina, United States of America.
Vaden KI Jr; The Medical University of South Carolina, Charleston, South Carolina, United States of America.
Steves CJ; Department of Twin Research and Genetic Epidemiology, King's College London, School of Life Course and Population Sciences, London, United Kingdom.
Williams FMK; Department of Twin Research and Genetic Epidemiology, King's College London, School of Life Course and Population Sciences, London, United Kingdom.
Schulte BA; The Medical University of South Carolina, Charleston, South Carolina, United States of America.
Dubno JR; The Medical University of South Carolina, Charleston, South Carolina, United States of America.
Steel KP; Wolfson Centre for Age-Related Diseases, King's College London, United Kingdom.; The Medical University of South Carolina, Charleston, South Carolina, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2023 Nov 27; Vol. 19 (11), pp. e1011058. Date of Electronic Publication: 2023 Nov 27 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Hearing Loss, Sensorineural*/genetics
Hearing Loss*/genetics
Deafness*/genetics
Humans ; Aged ; Exome Sequencing ; Hearing ; Pedigree ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
RecView: an interactive R application for locating recombination positions using pedigree data.
Autorzy:
Zhang H; Department of Biology, Lund University, Lund, 22362, Sweden. .
Hansson B; Department of Biology, Lund University, Lund, 22362, Sweden. .
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Źródło:
BMC genomics [BMC Genomics] 2023 Nov 25; Vol. 24 (1), pp. 712. Date of Electronic Publication: 2023 Nov 25.
Typ publikacji:
Journal Article
MeSH Terms:
Recombination, Genetic*
Genome*
Pedigree ; Genotype ; Chromosomes
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency
Autorzy:
Kardelen AD; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Najafli A; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey
Baş F; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Karaman B; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey; İstanbul University, Institute of Child Health, Department of Pediatric Basic Sciences, İstanbul, Turkey
Toksoy G; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey
Poyrazoğlu Ş; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Avcı Ş; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey; Koç University Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey
Altunoğlu U; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey; Marmara University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Yavaş Abalı Z; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey; Marmara University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Öztürk AP; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Karakılıç Özturan E; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Başaran S; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey
Darendeliler F; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Uyguner ZO; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Nov 22; Vol. 15 (4), pp. 338-347. Date of Electronic Publication: 2023 Jun 20.
Typ publikacji:
Journal Article
MeSH Terms:
Growth Hormone*/genetics
Pituitary Hormones*/genetics
Dwarfism, Pituitary*/genetics
Receptors, G-Protein-Coupled*/genetics
Humans ; Pedigree ; Male ; Female ; Infant ; Child ; Consanguinity
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract.
Autorzy:
Delas F; Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.
Koller S; Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.
Feil S; Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.
Dacheva I; Department of Ophthalmology, Cantonal Hospital of St. Gallen, 9007 St. Gallen, Switzerland.
Gerth-Kahlert C; Department of Ophthalmology, University Hospital of Zurich, 8091 Zurich, Switzerland.
Berger W; Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.; Neuroscience Center Zürich (ZNZ), University of Zurich and ETH Zurich, 8006 Zurich, Switzerland.; Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, 8006 Zurich, Switzerland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Nov 22; Vol. 24 (23). Date of Electronic Publication: 2023 Nov 22.
Typ publikacji:
Case Reports
MeSH Terms:
gamma-Crystallins*/chemistry
Cataract*/genetics
Cataract*/congenital
Humans ; Tryptophan/genetics ; DNA Copy Number Variations ; Pedigree ; Mutation ; Mutation, Missense
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Autorzy:
Martínez-Rubio D; Rare Neurodegenerative Diseases Laboratory, Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), 46012 València, Spain.; Joint Unit CIPF-IIS La Fe Rare Diseases, 46012 València, Spain.
Hinarejos I; Rare Neurodegenerative Diseases Laboratory, Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), 46012 València, Spain.; Joint Unit CIPF-IIS La Fe Rare Diseases, 46012 València, Spain.
Argente-Escrig H; Department of Neurology, Hospital Universitari Arnau de Vilanova, 46012 València, Spain.
Marco-Marín C; Structural Enzymopathology Unit, Instituto de Biomedicina de Valencia (IBV), Consejo Superior de Investigaciones Científicas (CSIC), 46022 València, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.
Lozano MA; Rare Neurodegenerative Diseases Laboratory, Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), 46012 València, Spain.
Gorría-Redondo N; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario de Navarra, Navarrabiomed, 31008 Pamplona, Spain.
Lupo V; Rare Neurodegenerative Diseases Laboratory, Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), 46012 València, Spain.
Martí-Carrera I; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario Donostia, 20014 Donostia, Spain.
Miranda C; Paediatric Neurology Unit, Department of Paediatrics, Hospital General Universitario Gregorio Marañón, 28027 Madrid, Spain.
Vázquez-López M; Paediatric Neurology Unit, Department of Paediatrics, Hospital General Universitario Gregorio Marañón, 28027 Madrid, Spain.
García-Pérez A; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario Fundación Alcorcón, Alcorcón, 28922 Madrid, Spain.
Marco-Hernández AV; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitari Doctor, Peset, 46017 València, Spain.
Tomás-Vila M; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
Aguilera-Albesa S; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario de Navarra, Navarrabiomed, 31008 Pamplona, Spain.
Espinós C; Rare Neurodegenerative Diseases Laboratory, Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), 46012 València, Spain.; Joint Unit CIPF-IIS La Fe Rare Diseases, 46012 València, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.; Biotechnology Department, Universitat Politècnica de València, 46022 València, Spain.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Nov 16; Vol. 24 (22). Date of Electronic Publication: 2023 Nov 16.
Typ publikacji:
Journal Article
MeSH Terms:
Cerebellar Ataxia*/genetics
Cerebellar Ataxia*/diagnosis
Cerebellar Diseases*
Spastic Paraplegia, Hereditary*/genetics
Neurodegenerative Diseases*
Child ; Humans ; Genetic Heterogeneity ; Mutation ; Ataxia ; Phenotype ; Paraplegia ; Pedigree ; Atrophy ; Microtubule-Associated Proteins/genetics ; Membrane Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Uncovering the Genetic and Molecular Features of Huntington's Disease in Northern Colombia.
Autorzy:
Ahmad M; Facultad de Ciencias de la Salud, Universidad Simón Bolívar, Barranquilla 080002, Colombia.; Life Science Research Center, Universidad Simón Bolívar, Barranquilla 080002, Colombia.
Ríos-Anillo MR; Facultad de Ciencias de la Salud, Universidad Simón Bolívar, Barranquilla 080002, Colombia.; Life Science Research Center, Universidad Simón Bolívar, Barranquilla 080002, Colombia.; Médica Residente de Neurología, Universidad Simón Bolívar, Barranquilla 080002, Colombia.
Acosta-López JE; Life Science Research Center, Universidad Simón Bolívar, Barranquilla 080002, Colombia.; Facultad de Ciencias Jurídicas y Sociales, Universidad Simón Bolívar, Barranquilla 080002, Colombia.
Cervantes-Henríquez ML; Life Science Research Center, Universidad Simón Bolívar, Barranquilla 080002, Colombia.; Facultad de Ciencias Jurídicas y Sociales, Universidad Simón Bolívar, Barranquilla 080002, Colombia.
Martínez-Banfi M; Life Science Research Center, Universidad Simón Bolívar, Barranquilla 080002, Colombia.; Facultad de Ciencias Jurídicas y Sociales, Universidad Simón Bolívar, Barranquilla 080002, Colombia.
Pineda-Alhucema W; Life Science Research Center, Universidad Simón Bolívar, Barranquilla 080002, Colombia.; Facultad de Ciencias Jurídicas y Sociales, Universidad Simón Bolívar, Barranquilla 080002, Colombia.
Puentes-Rozo P; Facultad de Ciencias de la Salud, Universidad Simón Bolívar, Barranquilla 080002, Colombia.; Life Science Research Center, Universidad Simón Bolívar, Barranquilla 080002, Colombia.; Grupo de Neurociencias del Caribe, Universidad del Atlántico, Barranquilla 080001, Colombia.
Sánchez-Barros C; Facultad de Ciencias de la Salud, Universidad Simón Bolívar, Barranquilla 080002, Colombia.; Life Science Research Center, Universidad Simón Bolívar, Barranquilla 080002, Colombia.; Departamento de Neurofisiología Clínica Palma de Mallorca, Hospital Juaneda Miramar, Islas Baleares, 07011 Palma, Spain.
Pinzón A; Bioinformatics and Systems Biology Laboratory, Institute for Genetics, Universidad Nacional de Colombia, Bogota 111321, Colombia.
Patel HR; National Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, ACT 2601, Australia.
Vélez JI; Department of Industrial Engineering, Universidad del Norte, Barranquilla 081007, Colombia.
Villarreal-Camacho JL; Programa de Medicina, Facultad de Ciencias de la Salud, Universidad Libre Seccional Barranquilla, Barranquilla 081007, Colombia.
Pineda DA; Grupo de Investigación en Neuropsicología y Conducta, Universidad de San Buenaventura, Medellin 050010, Colombia.; Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellin 050010, Colombia.
Arcos-Burgos M; Grupo de Investigación en Psiquiatría (GIPSI), Departamento de Psiquiatría, Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellin 050010, Colombia.
Sánchez-Rojas M; Facultad de Ciencias de la Salud, Universidad Simón Bolívar, Barranquilla 080002, Colombia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Nov 10; Vol. 24 (22). Date of Electronic Publication: 2023 Nov 10.
Typ publikacji:
Journal Article
MeSH Terms:
Huntington Disease*/genetics
Huntington Disease*/diagnosis
Adult ; Female ; Humans ; Colombia ; Alleles ; DNA ; Pedigree ; Huntingtin Protein/genetics ; Trinucleotide Repeat Expansion
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Naturally occurring canine laminopathy leading to a dilated and fibrosing cardiomyopathy in the Nova Scotia Duck Tolling Retriever.
Autorzy:
Bannasch DL; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, CA, USA. .
Oertle DT; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, CA, USA.
Vo J; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, CA, USA.
Batcher KL; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, CA, USA.
Stern JA; Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California Davis, Davis, CA, USA.
Kaplan JL; Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California Davis, Davis, CA, USA.
Li RHL; Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California Davis, Davis, CA, USA.
Madden IE; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, CA, USA.
Christen M; Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.
Leeb T; Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.
Joshi N; Bioinformatics Core, UC Davis Genome Center, University of California, Davis, CA, USA.
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Źródło:
Scientific reports [Sci Rep] 2023 Nov 04; Vol. 13 (1), pp. 19077. Date of Electronic Publication: 2023 Nov 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Lamin Type A*/genetics
Cardiomyopathy, Dilated*/genetics
Cardiomyopathy, Dilated*/veterinary
Humans ; Dogs ; Animals ; Adolescent ; Retrospective Studies ; Nova Scotia ; Fibrosis ; Death, Sudden ; Pedigree ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 21-40 z 19263

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