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Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.

• Authors : Kjellström U; Department of Clinical Sciences Lund, Ophthalmology, Lund University, Skane University Hospital, Lund, Sweden.; Martell S

Subjects: Genes, Recessive* ; Homozygote* ; Mutation* Stickler syndrome, type 1

• Source: Ophthalmic genetics [Ophthalmic Genet] 2021 Apr; Vol. 42 (2), pp. 161-169. Date of Electronic Publication: 2020 Dec 27.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.

• Authors : Wang C; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Tianjin Key Laboratory of Prevention and Treatment of Birth Defects, Tianjin, China.

Subjects: Mutation*; Homocystinuria/Homocystinuria/Homocystinuria/*genetics ; Oxidoreductases/Oxidoreductases/Oxidoreductases/*genetics

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jun; Vol. 8 (6), pp. e1221. Date of Electronic Publication: 2020 Mar 21.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome.

• Authors : Park SE; Department of Ophthalmology, Institute of Vision Research, Yonsei University College of Medicine , Seoul , South Korea.; Lee JS

Subjects: Mutation*; COUP Transcription Factor I/COUP Transcription Factor I/COUP Transcription Factor I/*genetics ; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*diagnosis

• Source: Ophthalmic genetics [Ophthalmic Genet] 2019 Aug; Vol. 40 (4), pp. 359-361. Date of Electronic Publication: 2019 Aug 08.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.

• Authors : Wang Z; a State Key Laboratory of Ophthalmology , Zhongshan Ophthalmic Center, Sun Yat-Sen University , Guangzhou , Guangdong , China.; Sun L

Subjects: Mutation*; Connexin 43/Connexin 43/Connexin 43/*genetics ; Craniofacial Abnormalities/Craniofacial Abnormalities/Craniofacial Abnormalities/*pathology Oculodentodigital Dysplasia

• Source: Ophthalmic genetics [Ophthalmic Genet] 2019 Feb; Vol. 40 (1), pp. 54-59. Date of Electronic Publication: 2019 Feb 15.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

• Authors : Zhou Z; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, No. 1954 Huashan Road, Shanghai, 200030, People's Republic of China.; Ma L

Subjects: Mutation/Mutation/Mutation/*genetics ; Organic Anion Transporters/Organic Anion Transporters/Organic Anion Transporters/*genetics ; Organic Cation Transport Proteins/Organic Cation Transport Proteins/Organic Cation Transport Proteins/*genetics Renal hypouricemia

• Source: BMC medical genetics [BMC Med Genet] 2018 Aug 10; Vol. 19 (1), pp. 142. Date of Electronic Publication: 2018 Aug 10.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients.

• Authors : Wang DN; a Department of Neurology and Institute of Neurology , First Affiliated Hospital of Fujian Medical University , Fuzhou , China.; Wang ZQ

Subjects: Family Health*; Muscular Dystrophies, Limb-Girdle/Muscular Dystrophies, Limb-Girdle/Muscular Dystrophies, Limb-Girdle/*genetics ; Mutation/Mutation/Mutation/*genetics Muscular Dystrophy, Limb-Girdle, Type 2I

• Source: The International journal of neuroscience [Int J Neurosci] 2018 Mar; Vol. 128 (3), pp. 199-207. Date of Electronic Publication: 2017 Oct 02.Publisher: Informa Healthcare Country of Publication: England NLM ID: 0270707 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Direct and indirect gene diagnosis of hemophilia A pedigrees in the Chinese population.

• Authors : Cao Y; The Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, P.R. China.; Shen L

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Mutation* ; Pedigree*

• Source: Molecular medicine reports [Mol Med Rep] 2017 Oct; Vol. 16 (4), pp. 5722-5728. Date of Electronic Publication: 2017 Aug 17.Publisher: D. A. Spandidos Country of Publication: Greece NLM ID: 101475259 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds.

• Authors : Liu G; Department of Neurology and Research Center of Neurology, Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine Second Affiliated Hospital, Hangzhou, China.; Ni W

Subjects: Family Health*; Amyloid Neuropathies, Familial/Amyloid Neuropathies, Familial/Amyloid Neuropathies, Familial/*genetics ; Genetic Predisposition to Disease/Genetic Predisposition to Disease/Genetic Predisposition to Disease/*genetics

• Source: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2017 Mar; Vol. 22 (1), pp. 19-26.Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print Cited Medium: Internet ISSN: 1529-8027

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Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.

• Authors : Hrčková G; 2nd Department of Pediatrics, Faculty of Medicine, Comenius University in Bratislava and University Children's Hospital Bratislava, Limbová 1, 833 40, Bratislava, Slovakia.; Jankó V

Subjects: Mutation*; Arginine Vasopressin/Arginine Vasopressin/Arginine Vasopressin/*genetics ; Diabetes Insipidus, Neurogenic/Diabetes Insipidus, Neurogenic/Diabetes Insipidus, Neurogenic/*genetics

• Source: European journal of pediatrics [Eur J Pediatr] 2016 Sep; Vol. 175 (9), pp. 1199-1207. Date of Electronic Publication: 2016 Aug 18.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A Novel Germline Mutation in Exon 10 of the SMAD4 Gene in a Familial Juvenile Polyposis.

• Authors : Myung Jin Jee¹; Soon Man Yoon¹ ; Eui Joong Kim¹

• Source: Gut & Liver. Nov2013, Vol. 7 Issue 6, p747-751. 5p.

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