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Journal of Medical Genetics|September 3, 2002
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)I A Aligianis, T Forshew, S Johnson, et al.
Brain Communications|February 26, 2021
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDLNeil V Morgan, Bryndis Yngvadottir, Mary O'Driscoll, et al.
Human Molecular Genetics|May 2, 2001
Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau diseaseS C Clifford, M E Cockman, A C Smallwood, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
Microarray based analysis of 3p25-p26 deletions (3p- syndrome)Salwati Shuib, Dominic McMullan, Eleanor Rattenberry, et al.
The British Journal of Ophthalmology|January 25, 2003
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphylomaM A Reddy, P J Francis, V Berry, et al.
Arquivos Brasileiros De Endocrinologia E Metabologia|January 9, 2013
Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenomaCésar Luiz Boguszewski, Tayane Muniz Fighera, Andressa Bornschein, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|June 19, 2008
Better life expectancy in women with BRCA2 compared with BRCA1 mutations is attributable to lower frequency and later onset of ovarian cancerLouise M Byrd, Andrew Shenton, Eamonn R Maher, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 27, 2002
The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardationVolker Endris, Birgit Wogatzky, Uwe Leimer, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|November 29, 2013
Increased rate of phenocopies in all age groups in BRCA1/BRCA2 mutation kindred, but increased prospective breast cancer risk is confined to BRCA2 mutation carriersD Gareth R Evans, Sarah L Ingham, Iain Buchan, et al.
Genes, Chromosomes & Cancer|August 1, 1997
Analysis of multiple renal cell adenomas and carcinomas suggests allelic loss at 3p21 to be a prerequisite for malignant developmentA van den Berg, T Dijkhuizen, T G Draaijers, et al.
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