Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 5
Results: 51
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1229, doi. 10.1002/ajmg.a.35302
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- Publication type:
- Article
Table of Contents, Volume 158A, Number 5, May 2012.
- Published in:
- 2012
- Publication type:
- Other
Editorial comment: New diagnostic criteria for Marfan syndrome.
- Published in:
- 2012
- By:
- Publication type:
- Editorial
Spending on genetic tests grows.
- Published in:
- 2012
- Publication type:
- Other
Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1124, doi. 10.1002/ajmg.a.35313
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- Publication type:
- Article
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1077, doi. 10.1002/ajmg.a.35290
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- Publication type:
- Article
Consanguinity and the risk of congenital heart disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1236, doi. 10.1002/ajmg.a.35272
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- Publication type:
- Article
Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1095, doi. 10.1002/ajmg.a.35294
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- Publication type:
- Article
COL1A1 association and otosclerosis: A meta-analysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1066, doi. 10.1002/ajmg.a.35276
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- Publication type:
- Article
Patients within the broad holoprosencephaly spectrum have distinct and subtle ophthalmologic anomalies: Response to Khan.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1244, doi. 10.1002/ajmg.a.35207
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- Publication type:
- Article
12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1071, doi. 10.1002/ajmg.a.35287
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- Publication type:
- Article
Autism and epistemology III: Child development, behavioral stability, and reliability of measurement.
- Published in:
- 2012
- By:
- Publication type:
- Editorial
American Journal of Medical Genetics Part A: Volume 158A, Number 5, May 2012.
- Published in:
- 2012
- Publication type:
- Other
Uncommon disorders in the spotlight.
- Published in:
- 2012
- Publication type:
- Other
Generation n + 1: Projected numbers of babies born to women with PKU compared to babies with PKU in the United States in 2009.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1118, doi. 10.1002/ajmg.a.35312
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- Publication type:
- Article
Book review of 'Your Genealogy Affects Your Health (Know Your Family Tree)' by F. Clarke Fraser.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1242, doi. 10.1002/ajmg.a.35260
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- Publication type:
- Article
Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1233, doi. 10.1002/ajmg.a.35305
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- Publication type:
- Article
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1055, doi. 10.1002/ajmg.a.35271
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- Publication type:
- Article
Analysis of skeletal dysplasias in the Utah population.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1046, doi. 10.1002/ajmg.a.35327
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- Publication type:
- Article
Reduced telomere length in individuals with FMR1 premutations and full mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1060, doi. 10.1002/ajmg.a.35275
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- Publication type:
- Article
A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 989, doi. 10.1002/ajmg.a.34392
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- Publication type:
- Article
Clinical and molecular characterization of a second case of 7p22.1 microduplication.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1200, doi. 10.1002/ajmg.a.35300
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- Publication type:
- Article
Pancreatic insufficiency in Toriello-Carey syndrome: Report of a second patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1208, doi. 10.1002/ajmg.a.35304
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- Publication type:
- Article
A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1221, doi. 10.1002/ajmg.a.35293
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- Publication type:
- Article
Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1111, doi. 10.1002/ajmg.a.35311
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- Publication type:
- Article
Clinical epidemiology of skeletal dysplasias in South America.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1038, doi. 10.1002/ajmg.a.35246
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- Publication type:
- Article
Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy?
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1185, doi. 10.1002/ajmg.a.35279
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- Publication type:
- Article
Café-au-lait macules and intertriginous freckling in piebaldism: Clinical overlap with neurofibromatosis type 1 and Legius syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1195, doi. 10.1002/ajmg.a.35297
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- Publication type:
- Article
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1178, doi. 10.1002/ajmg.a.35270
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- Publication type:
- Article
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1102, doi. 10.1002/ajmg.a.35296
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- Publication type:
- Article
The face in congenital melanocytic nevus syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1014, doi. 10.1002/ajmg.a.34217
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- Publication type:
- Article
Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1145, doi. 10.1002/ajmg.a.35337
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- Publication type:
- Article
Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1158, doi. 10.1002/ajmg.a.35263
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- Publication type:
- Article
Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1212, doi. 10.1002/ajmg.a.35274
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- Publication type:
- Article
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1020, doi. 10.1002/ajmg.a.35285
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- Publication type:
- Article
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1083, doi. 10.1002/ajmg.a.35292
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- Publication type:
- Article
Complex autism spectrum disorder in a patient with a 17q12 microduplication.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1170, doi. 10.1002/ajmg.a.35267
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- Publication type:
- Article
Biobank participation and returning research results: Perspectives from a deliberative engagement in South Side Chicago.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1029, doi. 10.1002/ajmg.a.34414
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- Publication type:
- Article
In this issue.
- Published in:
- 2012
- Publication type:
- Other
Prenatal ablation of nicotinic receptor alpha7 cell lineages produces lumbosacral spina bifida the severity of which is modified by choline and nicotine exposure.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1135, doi. 10.1002/ajmg.a.35372
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- Publication type:
- Article
Somatic mosaicism and the phenotypic expression of COL2A1 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1204, doi. 10.1002/ajmg.a.35303
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- Publication type:
- Article
Diagnostic yield in adults screened at the marfan outpatient clinic using the 1996 and 2010 ghent nosologies.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 982, doi. 10.1002/ajmg.a.35343
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- Publication type:
- Article
Microdeletion 19p13.2 in an almost 5-year-old boy.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1190, doi. 10.1002/ajmg.a.35291
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- Publication type:
- Article
EEC syndrome-like phenotype in a patient with an IRF6 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1219, doi. 10.1002/ajmg.a.35273
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- Publication type:
- Article
Alagille syndrome in a Vietnamese cohort: Mutation analysis and assessment of facial features.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1005, doi. 10.1002/ajmg.a.35255
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- Publication type:
- Article
Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1225, doi. 10.1002/ajmg.a.35295
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- Publication type:
- Article
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1164, doi. 10.1002/ajmg.a.35266
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- Publication type:
- Article
Spontaneous coronary artery dissection in a young woman with Loeys-Dietz syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1216, doi. 10.1002/ajmg.a.35277
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- Publication type:
- Article
Defining small eye phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1243, doi. 10.1002/ajmg.a.35208
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- Publication type:
- Article
Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989-2009.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1151, doi. 10.1002/ajmg.a.35248
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- Publication type:
- Article