Temat: "Genetic Association Studies" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: The correlation between the expression of ATF4 and procalcitonin combined with the detection of RET mutation and the pathological stage and clinical prognosis of medullary thyroid carcinoma.
Autorzy:: Ma S; Department of General Surgery, Shanghai Xuhui District Central Hospital, Shanghai 200031, China.; Department of General Surgery, Shanghai Xuhui District Central Hospital, Shanghai 200031, China.
Wang H; Department of General Surgery, Shanghai Xuhui District Central Hospital, Shanghai 200031, China.; Department of General Surgery, Shanghai Xuhui District Central Hospital, Shanghai 200031, China.
Li W; Department of General Surgery, Shanghai Xuhui District Central Hospital, Shanghai 200031, China.; Department of General Surgery, Shanghai Xuhui District Central Hospital, Shanghai 200031, China.
Yan Z; Department of General Surgery, Shanghai Xuhui District Central Hospital, Shanghai 200031, China.; Department of General Surgery, Shanghai Xuhui District Central Hospital, Shanghai 200031, China.
Luo X; Department of General Surgery, Shanghai Xuhui District Central Hospital, Shanghai 200031, China.; Department of General Surgery, Shanghai Xuhui District Central Hospital, Shanghai 200031, China.
Lu P; Department of General Surgery, Shanghai Xuhui District Central Hospital, Shanghai 200031, China.; Department of General Surgery, Shanghai Xuhui District Central Hospital, Shanghai 200031, China.; Pokaż więcej
Źródło:: Canadian journal of physiology and pharmacology [Can J Physiol Pharmacol] 2022 Jan; Vol. 100 (1), pp. 19-25. Date of Electronic Publication: 2021 Nov 25.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Association Studies*
Mutation*
Activating Transcription Factor 4/*genetics
Activating Transcription Factor 4/*metabolism
Carcinoma, Neuroendocrine/*genetics
Carcinoma, Neuroendocrine/*pathology
Gene Expression/*genetics
Procalcitonin/*genetics
Procalcitonin/*metabolism
Proto-Oncogene Proteins c-ret/*genetics
Thyroid Neoplasms/*genetics
Thyroid Neoplasms/*pathology
Adult ; Carcinoma, Neuroendocrine/mortality ; DNA Mutational Analysis/methods ; Female ; Humans ; Male ; Middle Aged ; Neoplasm Staging ; Prognosis ; Risk Factors ; Survival Rate ; Thyroid Neoplasms/mortality
SCR Disease Name:: Thyroid cancer, medullary

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Skocz do pozycji: 2.

Tytuł:: Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
Autorzy:: Braun F; Department of Neuropediatrics, Essen University Hospital, Essen, Germany.
Gangfuß A; Department of Neuropediatrics, Essen University Hospital, Essen, Germany.
Stöbe P; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tübingen, Germany.
Schweiger B; Institute for Diagnostic and Interventional Radiology and Neuroradiology, Essen University Hospital, Essen, Germany.
Roos A; Department of Neuropediatrics, Essen University Hospital, Essen, Germany.
Schara U; Department of Neuropediatrics, Essen University Hospital, Essen, Germany.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Dec; Vol. 9 (12), pp. e1767. Date of Electronic Publication: 2021 Jul 20.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Mutation*
Carrier Proteins/*genetics
Craniofacial Abnormalities/*diagnosis
Craniofacial Abnormalities/*genetics
Dysostoses/*diagnosis
Dysostoses/*genetics
Ribs/*abnormalities
Spine/*abnormalities
Alleles ; Facies ; Female ; Genotype ; Humans ; Infant ; Infant, Newborn ; Kidney/abnormalities ; Kidney/diagnostic imaging ; Pedigree ; Phenotype ; Spine/diagnostic imaging ; Tomography, Spiral Computed
SCR Disease Name:: Diaphanospondylodysostosis

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Skocz do pozycji: 3.

Tytuł:: Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Autorzy:: Barroso-Gil M; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.
Olinger E; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.
Ramsbottom SA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.
Molinari E; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.
Miles CG; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.
Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.; Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.; NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle Upon Tyne, UK.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Dec; Vol. 9 (12), pp. e1603. Date of Electronic Publication: 2021 Jan 24.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Gene Expression*
Genetic Association Studies*
Genetic Predisposition to Disease*
Mutation*
Cell Cycle Proteins/*genetics
Ciliopathies/*genetics
Cytoskeletal Proteins/*genetics
Alleles ; Ciliopathies/diagnosis ; Ciliopathies/therapy ; Exons ; Gene Expression Profiling ; Genetic Loci ; Genetic Therapy/methods ; Humans ; Oligonucleotides, Antisense/genetics ; Oligonucleotides, Antisense/therapeutic use ; Organ Specificity ; Phenotype ; Precision Medicine

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Skocz do pozycji: 4.

Tytuł:: Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
Autorzy:: N Abdel-Aziz N; Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Y El-Kamah G; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
A Khairat R; Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
R Mohamed H; Zoology Department, Faculty of Science, Cairo University, Cairo, Egypt.
Z Gad Y; Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
El-Ghor AM; Zoology Department, Faculty of Science, Cairo University, Cairo, Egypt.
Amr KS; Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Dec; Vol. 9 (12), pp. e1631. Date of Electronic Publication: 2021 Jun 03.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Family*
Genes, Neurofibromatosis 1*
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Mutation*
Neurofibromatosis 1/*diagnosis
Neurofibromatosis 1/*genetics
Adolescent ; Adult ; Alleles ; Cafe-au-Lait Spots ; Child ; Child, Preschool ; DNA Mutational Analysis ; Echocardiography ; Egypt ; Electroencephalography ; Female ; Genotype ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Pedigree ; Phenotype ; Tomography, X-Ray Computed ; Young Adult

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Skocz do pozycji: 5.

Tytuł:: De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper- and Hypo-pigmentation (FPHH).
Autorzy:: Gorenjak M; Faculty of Medicine, Centre for Human Molecular Genetics and Pharmacogenomics, University of Maribor, Maribor, Slovenia.
Fijačko N; Faculty of Health Sciences, Department of Nursing, Maribor, Slovenia.
Bogomir Marko P; Department of Dermatology and Venereal Diseases, University Clinical Centre Maribor, Maribor, Slovenia.
Živanović M; Faculty of Medicine, Institute of Pathology, University of Ljubljana, Ljubljana, Slovenia.
Potočnik U; Faculty of Medicine, Centre for Human Molecular Genetics and Pharmacogenomics, University of Maribor, Maribor, Slovenia.; Faculty of Chemistry and Chemical Engineering, Laboratory of Biochemistry, Molecular Biology and Genomics, University of Maribor, Maribor, Slovenia.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Dec; Vol. 9 (12), pp. e1841. Date of Electronic Publication: 2021 Oct 30.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Mutation*
Hyperpigmentation/*diagnosis
Hyperpigmentation/*genetics
Hypopigmentation/*diagnosis
Hypopigmentation/*genetics
Stem Cell Factor/*genetics
Amino Acid Sequence ; Humans ; Immunohistochemistry ; Pedigree ; Phenotype ; Sequence Analysis, DNA ; Skin/pathology ; Stem Cell Factor/chemistry

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Skocz do pozycji: 6.

Tytuł:: A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.
Autorzy:: Cappato S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Sciences (DINOGMI), University of Genoa, Genoa, Italy.
Traberg R; Department of Genetics and Molecular Medicine, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Gintautiene J; Department of Paediatric Surgery, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Sciences (DINOGMI), University of Genoa, Genoa, Italy.; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Bocciardi R; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Sciences (DINOGMI), University of Genoa, Genoa, Italy.; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Oct; Vol. 9 (10), pp. e1774. Date of Electronic Publication: 2021 Aug 04.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Association Studies*
Genetic Predisposition to Disease*
Mutation*
Activin Receptors, Type I/*genetics
Myositis Ossificans/*diagnosis
Myositis Ossificans/*genetics
Alleles ; Amino Acid Substitution ; Cell Line, Tumor ; Child, Preschool ; Genotype ; Humans ; Male ; Radiography

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Skocz do pozycji: 7.

Tytuł:: Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.
Autorzy:: Mosrati MA; Laboratoire de Procédés de Criblages Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Sfax, Tunisie.
Fadhlaoui-Zid K; Laboratory of Genetics, Immunology, and Human Pathologies, Faculty of Science of Tunis, University Tunis El Manar, Tunis, Tunisia.; Department of Biology, College of Science, Taibah University, Al Madinah Al Munawarah, Saudi Arabia.; Higher Institute of Biotechnology of Beja, University of Jendouba, Beja, Tunisia.
Benammar-Elgaaied A; Laboratory of Genetics, Immunology, and Human Pathologies, Faculty of Science of Tunis, University Tunis El Manar, Tunis, Tunisia.
Gibriel AA; Department of Biochemistry and Molecular Biology, Faculty of Pharmacy, The British University in Egypt (BUE), Cairo, Egypt.
Ben Said M; Laboratoire de Procédés de Criblages Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Sfax, Tunisie.
Masmoudi S; Laboratoire de Procédés de Criblages Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Sfax, Tunisie.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Oct; Vol. 9 (10), pp. e1810. Date of Electronic Publication: 2021 Sep 13.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Alleles*
Genetic Association Studies*
Genetic Predisposition to Disease*
Mutation*
Deafness/*diagnosis
Deafness/*genetics
Proteins/*genetics
Africa, Northern ; Consanguinity ; Deafness/epidemiology ; Genetic Testing ; Genetics, Population ; Genotype ; Humans ; Microsatellite Repeats ; Pedigree
SCR Disease Name:: Nonsyndromic Deafness

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Skocz do pozycji: 8.

Tytuł:: Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Autorzy:: Yabumoto M; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
Kianmahd J; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
Singh M; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
Palafox MF; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
Wei A; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
Elliott K; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
Goodloe DH; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Dean SJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Gooch C; Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, Missouri, USA.
Murray BK; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
Swartz E; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
Towne MC; Ambry Genetics Corp, Aliso Viejo, California, USA.
Nugent K; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Kresge C; Department of Pediatrics, Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.
Pletcher BA; Department of Pediatrics, Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.
Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Graham JM Jr; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Gates R; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA.
Gomez-Ospina N; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA.
Ramanathan S; Department of Pediatrics, Division of Medical Genetics, Loma Linda University Children's Hospital, Loma Linda, California, USA.
Clark RD; Department of Pediatrics, Division of Medical Genetics, Loma Linda University Children's Hospital, Loma Linda, California, USA.
Glaser K; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
Benke PJ; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Fatemi A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Mu W; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Baranano KW; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Madden JA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
Gubbels CS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Yu TW; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Agrawal PB; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
Chambers MK; Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, Rhode Island, USA.
Phornphutkul C; Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, Rhode Island, USA.
Pugh JA; Division of Child Neurology, Department of Neurology, Albany Medical Center, Albany, New York, USA.
Tauber KA; Division of Neonatology, Department of Pediatrics, Albany Medical Center, Bernard and Millie Duker Children's Hospital, Albany, New York, USA.
Azova S; Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Smith JR; Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
O'Donnell-Luria A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Medsker H; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Krakow D; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Obstetrics and Gynecology, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
Schweitzer DN; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
Arboleda VA; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Oct; Vol. 9 (10), pp. e1809. Date of Electronic Publication: 2021 Sep 14.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: Genetic Association Studies*
Genetic Predisposition to Disease*
Mutation*
Phenotype*
Histone Acetyltransferases/*genetics
Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Alleles ; Blepharophimosis/diagnosis ; Blepharophimosis/genetics ; Cohort Studies ; Congenital Hypothyroidism/diagnosis ; Congenital Hypothyroidism/genetics ; Craniofacial Abnormalities/diagnosis ; Craniofacial Abnormalities/genetics ; Facies ; Genetic Counseling ; Genetic Loci ; Genotype ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/genetics ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Joint Instability/diagnosis ; Joint Instability/genetics ; Kidney/abnormalities ; Male ; Patella/abnormalities ; Psychomotor Disorders/diagnosis ; Psychomotor Disorders/genetics ; Scrotum/abnormalities ; Urogenital Abnormalities/diagnosis ; Urogenital Abnormalities/genetics
SCR Disease Name:: Genitopatellar Syndrome; Young Simpson syndrome

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Skocz do pozycji: 9.

Tytuł:: Targeted deep next generation sequencing identifies potential somatic and germline variants for predisposition to familial Burkitt lymphoma.
Autorzy:: Okabe M; Department of Hematology, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.
Morishita T; Department of Hematology, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.
Yasuda T; Clinical Research Center, Nagoya Medical Center, National Hospital Organization, Nagoya, Japan.
Sakaguchi H; Department of Hematology and Oncology, Children's Medical Center, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.
Sanada M; Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan.
Kataoka K; Division of Molecular Oncology, National Cancer Center Research Institute, Tokyo, Japan.
Ogawa S; Department of Pathology and Tumor biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Shiraishi Y; Division of Cellular Signaling, National Cancer Center Research Institute, Tokyo, Japan.
Ichiki T; Department of Hematology, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.
Kawaguchi Y; Department of Hematology, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.
Ohbiki M; Department of Hematology, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.
Matsumoto R; Department of Hematology, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.
Osaki M; Department of Hematology, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.
Goto T; Department of Hematology, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.
Ozawa Y; Department of Hematology, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.
Miyamura K; Department of Hematology, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.; Pokaż więcej
Źródło:: European journal of haematology [Eur J Haematol] 2021 Jul; Vol. 107 (1), pp. 166-169. Date of Electronic Publication: 2021 Apr 12.
Typ publikacji:: Letter
MeSH Terms:: Genetic Association Studies*
Genetic Predisposition to Disease*
Germ-Line Mutation*
High-Throughput Nucleotide Sequencing*/methods
Mutation*
Burkitt Lymphoma/*diagnosis
Burkitt Lymphoma/*genetics
Family ; Humans

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Skocz do pozycji: 10.

Tytuł:: Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients.
Autorzy:: Balla C; Cardiological Center, University of Ferrara, 44121 Ferrara, Italy.
Conte E; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.
Selvatici R; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
Marsano RM; Department of Biology, University of Bari 'Aldo Moro', 70125 Bari, Italy.
Gerbino A; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari 'Aldo Moro', 70125 Bari, Italy.
Farnè M; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
Blunck R; Department of Physics, Université de Montréal, Montréal, QC H3C 3J7, Canada.
Vitali F; Cardiological Center, University of Ferrara, 44121 Ferrara, Italy.
Armaroli A; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
Brieda A; Cardiological Center, University of Ferrara, 44121 Ferrara, Italy.
Liantonio A; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.
De Luca A; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.
Ferlini A; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
Rapezzi C; Cardiological Center, University of Ferrara, 44121 Ferrara, Italy.; Maria Cecilia Hospital, GVM Care & Research, 48033 Cotignola, Italy.
Bertini M; Cardiological Center, University of Ferrara, 44121 Ferrara, Italy.
Gualandi F; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
Imbrici P; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2021 Jun 17; Vol. 22 (12). Date of Electronic Publication: 2021 Jun 17.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Mutation*
Brugada Syndrome/*diagnosis
Brugada Syndrome/*genetics
NAV1.5 Voltage-Gated Sodium Channel/*genetics
Action Potentials ; Aged ; Aged, 80 and over ; Alleles ; Amino Acid Substitution ; Electrocardiography ; Female ; Genotype ; Humans ; Italy ; Male ; Models, Biological ; Models, Molecular ; NAV1.5 Voltage-Gated Sodium Channel/chemistry ; NAV1.5 Voltage-Gated Sodium Channel/metabolism ; Pedigree ; Phenotype ; Protein Conformation ; Protein Transport

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Skocz do pozycji: 11.

Tytuł:: Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Autorzy:: Smirnov V; Université de Lille, Faculté de Médecine, 59037 Lille, France.; CHU Lille, Service d'Exploration Fonctionnelle de la Vision et de Neuro-Ophtalmologie, Hôpital Salengro, 59037 Lille, France.; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Grunewald O; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, 59045 Lille, France.
Muller J; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg UMRS_1112, 67000 Strasbourg, France.; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d'Alsace (IGMA), 67000 Strasbourg, France.
Zeitz C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Obermaier CD; Praxis für Humangenetik Tuebingen & Center for Genomics and Transcriptomics, CeGaT GmbH, 72076 Tuebingen, Germany.
Devos A; Univ. Lille, CHU Lille, Service de Toxicologie et Génopathies, 59037 Lille, France.
Pelletier V; Centre de Référence pour les Affections Rares en Génétique Ophtalmologiques, Hopitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
Bocquet B; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, 34295 Montpellier, France.; Institute for Neurosciences of Montpellier (INM), INSERM, University of Montpellier, INSERM, 34295 Montpellier, France.
Andrieu C; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 1423, 75012 Paris, France.
Bacquet JL; Centre de Référence pour les Affections Rares en Génétique Ophtalmologiques, Hopitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
Lebredonchel E; Univ. Lille, CHU Lille, Service de Toxicologie et Génopathies, 59037 Lille, France.
Mohand-Saïd S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 1423, 75012 Paris, France.
Defoort-Dhellemmes S; CHU Lille, Service d'Exploration Fonctionnelle de la Vision et de Neuro-Ophtalmologie, Hôpital Salengro, 59037 Lille, France.
Sahel JA; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 1423, 75012 Paris, France.; Fondation Ophtalmologique Adolphe de Rothschild, 75019 Paris, France.; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Dollfus H; Centre de Référence pour les Affections Rares en Génétique Ophtalmologiques, Hopitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
Zanlonghi X; Service d'Ophtalmologie, CHU de Rennes, 35000 Rennes, France.
Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 1423, 75012 Paris, France.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Meunier I; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, 34295 Montpellier, France.; Institute for Neurosciences of Montpellier (INM), INSERM, University of Montpellier, INSERM, 34295 Montpellier, France.
Boulanger-Scemama E; Fondation Ophtalmologique Adolphe de Rothschild, 75019 Paris, France.
Dhaenens CM; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, 59045 Lille, France.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2021 Jun 15; Vol. 22 (12). Date of Electronic Publication: 2021 Jun 15.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Association Studies*
Genetic Predisposition to Disease*
Carrier Proteins/*genetics
Cone-Rod Dystrophies/*genetics
Eye Diseases, Hereditary/*genetics
Mutation/*genetics
Retinal Dystrophies/*genetics
Adult ; Aged ; Child ; Chromosome Breakpoints ; Computer Simulation ; Cone-Rod Dystrophies/physiopathology ; DNA Copy Number Variations/genetics ; Electroretinography ; Eye Diseases, Hereditary/physiopathology ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Phenotype ; Retinal Dystrophies/physiopathology
SCR Disease Name:: Retinal Dystrophy, Early Onset Severe

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Skocz do pozycji: 12.

Tytuł:: Association of genetic variants in TPMT, ITPA, and NUDT15 with azathioprine-induced myelosuppression in southwest china patients with autoimmune hepatitis.
Autorzy:: Miao Q; Department of Laboratory Medicine/Research Center of Clinical Laboratory Medicine, West China Hospital of Sichuan University, No.37, Guoxue Xiang, Wuhou District, Chengdu, 610041, China.
Yan L; Department of Laboratory Medicine/Research Center of Clinical Laboratory Medicine, West China Hospital of Sichuan University, No.37, Guoxue Xiang, Wuhou District, Chengdu, 610041, China.
Zhou Y; Department of Laboratory Medicine/Research Center of Clinical Laboratory Medicine, West China Hospital of Sichuan University, No.37, Guoxue Xiang, Wuhou District, Chengdu, 610041, China.
Li Y; Department of Laboratory Medicine/Research Center of Clinical Laboratory Medicine, West China Hospital of Sichuan University, No.37, Guoxue Xiang, Wuhou District, Chengdu, 610041, China.
Zou Y; Department of Laboratory Medicine/Research Center of Clinical Laboratory Medicine, West China Hospital of Sichuan University, No.37, Guoxue Xiang, Wuhou District, Chengdu, 610041, China.
Wang L; Department of Laboratory Medicine/Research Center of Clinical Laboratory Medicine, West China Hospital of Sichuan University, No.37, Guoxue Xiang, Wuhou District, Chengdu, 610041, China.
Bai Y; Department of Laboratory Medicine/Research Center of Clinical Laboratory Medicine, West China Hospital of Sichuan University, No.37, Guoxue Xiang, Wuhou District, Chengdu, 610041, China. .
Zhang J; Department of Laboratory Medicine/Research Center of Clinical Laboratory Medicine, West China Hospital of Sichuan University, No.37, Guoxue Xiang, Wuhou District, Chengdu, 610041, China. immune_.; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2021 Apr 12; Vol. 11 (1), pp. 7984. Date of Electronic Publication: 2021 Apr 12.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Association Studies*
Azathioprine/*adverse effects
Hepatitis, Autoimmune/*genetics
Leukopenia/*chemically induced
Methyltransferases/*genetics
Mutation/*genetics
Pyrophosphatases/*genetics
Adult ; Aged ; Alleles ; China ; Female ; Guanine Nucleotides ; Hepatitis, Autoimmune/drug therapy ; Humans ; Leukopenia/genetics ; Male ; Middle Aged ; Phenotype ; Thionucleotides

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Skocz do pozycji: 13.

Tytuł:: Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR).
Autorzy:: Carrera W; Department of Ophthalmology, California Pacific Medical Center, San Francisco, California, USA.
Ng C; Department of Ophthalmology, California Pacific Medical Center, San Francisco, California, USA.; West Coast Retina Group, San Francisco, California, USA.
Desler C; West Coast Retina Group, San Francisco, California, USA.
Jumper JM; Department of Ophthalmology, California Pacific Medical Center, San Francisco, California, USA.; West Coast Retina Group, San Francisco, California, USA.
Agarwal A; Department of Ophthalmology, California Pacific Medical Center, San Francisco, California, USA.; West Coast Retina Group, San Francisco, California, USA.; Vanderbilt Eye Institute, Nashville, Tennessee, USA.; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2021 Apr; Vol. 42 (2), pp. 200-203. Date of Electronic Publication: 2020 Dec 10.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Association Studies*
Mutation*
Familial Exudative Vitreoretinopathies/*genetics
Familial Exudative Vitreoretinopathies/*pathology
Frizzled Receptors/*genetics
Low Density Lipoprotein Receptor-Related Protein-5/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Genetic Testing ; Humans ; Infant ; Male ; Middle Aged ; Retrospective Studies ; Young Adult

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Skocz do pozycji: 14.

Tytuł:: Genotype to Phenotype: CRISPR Gene Editing Reveals Genetic Compensation as a Mechanism for Phenotypic Disjunction of Morphants and Mutants.
Autorzy:: Salanga CM; Office of the Vice President for Research, Northern Arizona University, Flagstaff, AZ 86011, USA.; Department of Biological Sciences, Northern Arizona University, Flagstaff, AZ 86011, USA.
Salanga MC; Department of Biological Sciences, Northern Arizona University, Flagstaff, AZ 86011, USA.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2021 Mar 27; Vol. 22 (7). Date of Electronic Publication: 2021 Mar 27.
Typ publikacji:: Journal Article; Review
MeSH Terms:: CRISPR-Cas Systems*
Genetic Association Studies*
Mutation*
Gene Editing/*methods
Nonsense Mediated mRNA Decay/*genetics
Transcription Activator-Like Effector Nucleases/*genetics
Animals ; Codon, Nonsense ; Genetic Techniques ; Genomics ; Genotype ; INDEL Mutation ; Mutagenesis ; Phenotype ; Zebrafish

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Skocz do pozycji: 15.

Tytuł:: Novel mutations in the signal transducer and activator of transcription 3 gene are associated with sheep body weight and fatness traits.
Autorzy:: Chong Y; Laboratory of Small Ruminant Genetics, Breeding and Reproduction, Huazhong Agricultural University, Wuhan, 430070, China.; Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of the Ministry of Education, Huazhong Agricultural University, Wuhan, 430070, China.
Liu G; Laboratory of Small Ruminant Genetics, Breeding and Reproduction, Huazhong Agricultural University, Wuhan, 430070, China.; Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of the Ministry of Education, Huazhong Agricultural University, Wuhan, 430070, China.
Girmay S; Laboratory of Small Ruminant Genetics, Breeding and Reproduction, Huazhong Agricultural University, Wuhan, 430070, China.
Jiang X; Laboratory of Small Ruminant Genetics, Breeding and Reproduction, Huazhong Agricultural University, Wuhan, 430070, China. .; Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of the Ministry of Education, Huazhong Agricultural University, Wuhan, 430070, China. .; Pokaż więcej
Źródło:: Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2021 Feb; Vol. 32 (1), pp. 38-49. Date of Electronic Publication: 2021 Jan 25.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Association Studies*
Mutation*
Phenotype*
Quantitative Trait, Heritable*
Body Weight/*genetics
STAT3 Transcription Factor/*genetics
Animals ; Genetic Markers ; Polymorphism, Single Nucleotide ; Sheep

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Skocz do pozycji: 16.

Tytuł:: A novel mutation in the aspartate beta-hydroxylase ( ASPH ) gene is associated with a rare form of Traboulsi syndrome.
Autorzy:: Senthil S; VST Centre for Glaucoma Care, LV Prasad Eye Institute , Hyderabad, India.
Sharma S; Prof Brien Holden Eye Research Centre, LV Prasad Eye Institute , Hyderabad, India.
Vishwakarma S; Prof Brien Holden Eye Research Centre, LV Prasad Eye Institute , Hyderabad, India.
Kaur I; Prof Brien Holden Eye Research Centre, LV Prasad Eye Institute , Hyderabad, India.; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2021 Feb; Vol. 42 (1), pp. 28-34. Date of Electronic Publication: 2020 Nov 29.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Association Studies*
Mutation*
Calcium-Binding Proteins/*genetics
Craniofacial Abnormalities/*genetics
Craniofacial Abnormalities/*pathology
Ectopia Lentis/*genetics
Ectopia Lentis/*pathology
Iris/*abnormalities
Membrane Proteins/*genetics
Mixed Function Oxygenases/*genetics
Muscle Proteins/*genetics
Adolescent ; Adult ; Case-Control Studies ; Female ; Homozygote ; Humans ; Iris/pathology ; Male ; Pedigree ; Syndrome ; Young Adult
SCR Disease Name:: Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism

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Skocz do pozycji: 17.

Tytuł:: Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.
Autorzy:: Maslova EA; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia.; Novosibirsk State University, Novosibirsk 630090, Russia.
Orishchenko KE; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia.; Novosibirsk State University, Novosibirsk 630090, Russia.
Posukh OL; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia.; Novosibirsk State University, Novosibirsk 630090, Russia.; Pokaż więcej
Źródło:: Biomolecules [Biomolecules] 2021 Jan 05; Vol. 11 (1). Date of Electronic Publication: 2021 Jan 05.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Association Studies*
Genetic Predisposition to Disease*
Connexin 26/*genetics
Deafness/*genetics
Mutation/*genetics
Cell Count ; Cell Membrane Permeability ; Connexin 26/chemistry ; HeLa Cells ; Humans ; Transgenes
SCR Disease Name:: Nonsyndromic Deafness

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Skocz do pozycji: 18.

Tytuł:: Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.
Autorzy:: Yu R; Department of ENT, First Affiliated Hospital of Nanchang University, Nanchang, 330006, Jiangxi, People's Republic of China.
Jiang H; Department of ENT, First Affiliated Hospital of Nanchang University, Nanchang, 330006, Jiangxi, People's Republic of China.
Liao H; Department of ENT, First Affiliated Hospital of Nanchang University, Nanchang, 330006, Jiangxi, People's Republic of China.
Luo W; Department of ENT, First Affiliated Hospital of Nanchang University, Nanchang, 330006, Jiangxi, People's Republic of China. .; Pokaż więcej
Źródło:: BMC medical genomics [BMC Med Genomics] 2020 Dec 11; Vol. 13 (1), pp. 187. Date of Electronic Publication: 2020 Dec 11.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Association Studies*
Mutation*
Abnormalities, Multiple/*genetics
Carpal Bones/*abnormalities
Carrier Proteins/*genetics
Foot Deformities, Congenital/*genetics
Hand Deformities, Congenital/*genetics
Hearing Loss, Conductive/*genetics
Stapes/*abnormalities
Stapes/*pathology
Synostosis/*genetics
Tarsal Bones/*abnormalities
Adult ; Amino Acid Substitution ; Auditory Threshold ; Base Sequence ; Child ; Female ; Hearing Loss, Conductive/surgery ; Humans ; Pedigree ; Phenotype ; Recurrence ; Retrospective Studies ; Sclerosis ; Stapes Surgery
SCR Disease Name:: NOG-Related-Symphalangism Spectrum Disorder

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Skocz do pozycji: 19.

Tytuł:: Clinical characteristics and prognostic study of adult acute myeloid leukemia patients with ASXL1 mutations.
Autorzy:: Lin Y; Union Clinical Medical College, Fujian Medical University, Fuzhou, People's Republic of China.; Department of Hematology, The First Affiliated Hospital of Xiamen University, Xiamen, People's Republic of China.
Wang Y; Union Clinical Medical College, Fujian Medical University, Fuzhou, People's Republic of China.; Department of Hematology, The Second affiliated Hospital of Fujian Medical University, Quanzhou, People's Republic of China.
Zheng Y; Union Clinical Medical College, Fujian Medical University, Fuzhou, People's Republic of China.
Wang Z; Union Clinical Medical College, Fujian Medical University, Fuzhou, People's Republic of China.
Wang Y; Union Clinical Medical College, Fujian Medical University, Fuzhou, People's Republic of China.
Wang S; Fujian Provincial Key Laboratory on Hematology, Fujian Medical University Union Hospital, Fuzhou, People's Republic of China.; Pokaż więcej
Źródło:: Hematology (Amsterdam, Netherlands) [Hematology] 2020 Dec; Vol. 25 (1), pp. 446-456.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Mutation*
Phenotype*
Leukemia, Myeloid, Acute/*diagnosis
Leukemia, Myeloid, Acute/*genetics
Repressor Proteins/*genetics
Adolescent ; Adult ; Age Factors ; Aged ; Aged, 80 and over ; Biomarkers, Tumor ; Chromosome Aberrations ; Diagnosis, Differential ; Disease Management ; Female ; Humans ; Kaplan-Meier Estimate ; Karyotype ; Leukemia, Myeloid, Acute/mortality ; Leukemia, Myeloid, Acute/therapy ; Male ; Middle Aged ; Prognosis ; Risk Factors ; Young Adult

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Skocz do pozycji: 20.

Tytuł:: Two novel PDE6C gene mutations in Chinese family with achromatopsia.
Autorzy:: Yuan S; Ningxia Clinical Research Center of Blinding Eye Disease, Ningxia Eye Hospital, People Hospital of Ningxia Hui Autonomous Region (First Affiliated Hospital of Northwest University for Nationalities) , Yinchuan, China.
Qi R; Ningxia Clinical Research Center of Blinding Eye Disease, Ningxia Eye Hospital, People Hospital of Ningxia Hui Autonomous Region (First Affiliated Hospital of Northwest University for Nationalities) , Yinchuan, China.; Aier Eye Hospital Group, Hubin Aier Eye Hospital , Binzhou, Shangdong, China.
Fang X; Ningxia Clinical Research Center of Blinding Eye Disease, Ningxia Eye Hospital, People Hospital of Ningxia Hui Autonomous Region (First Affiliated Hospital of Northwest University for Nationalities) , Yinchuan, China.
Wang X; Ningxia Clinical Research Center of Blinding Eye Disease, Ningxia Eye Hospital, People Hospital of Ningxia Hui Autonomous Region (First Affiliated Hospital of Northwest University for Nationalities) , Yinchuan, China.
Zhou L; Ningxia Clinical Research Center of Blinding Eye Disease, Ningxia Eye Hospital, People Hospital of Ningxia Hui Autonomous Region (First Affiliated Hospital of Northwest University for Nationalities) , Yinchuan, China.
Sheng X; Ningxia Clinical Research Center of Blinding Eye Disease, Ningxia Eye Hospital, People Hospital of Ningxia Hui Autonomous Region (First Affiliated Hospital of Northwest University for Nationalities) , Yinchuan, China.; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2020 Dec; Vol. 41 (6), pp. 591-598. Date of Electronic Publication: 2020 Aug 12.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Association Studies*
Mutation*
Asian People/*genetics
Color Vision Defects/*genetics
Color Vision Defects/*pathology
Cyclic Nucleotide Phosphodiesterases, Type 6/*genetics
Eye Proteins/*genetics
Adult ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Humans ; Male ; Pedigree

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