Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 6
Results: 52
The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1292, doi. 10.1002/ajmg.a.35321
- By:
- Publication type:
- Article
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1411, doi. 10.1002/ajmg.a.35318
- By:
- Publication type:
- Article
Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1395, doi. 10.1002/ajmg.a.35361
- By:
- Publication type:
- Article
Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1452, doi. 10.1002/ajmg.a.35354
- By:
- Publication type:
- Article
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1472, doi. 10.1002/ajmg.a.35365
- By:
- Publication type:
- Article
Wiedemann-Rautenstrauch syndrome: Report of a variant case.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1434, doi. 10.1002/ajmg.a.35336
- By:
- Publication type:
- Article
Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1285, doi. 10.1002/ajmg.a.35347
- By:
- Publication type:
- Article
De novo duplication and deletions at 7q in a three-generation family.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1493, doi. 10.1002/ajmg.a.35332
- By:
- Publication type:
- Article
Brain abnormalities in patients with Beckwith-Wiedemann syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1388, doi. 10.1002/ajmg.a.35358
- By:
- Publication type:
- Article
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1406, doi. 10.1002/ajmg.a.35329
- By:
- Publication type:
- Article
Table of Contents, Volume 158A, Number 6, June 2012.
- Published in:
- 2012
- Publication type:
- Other
A girl with two syndromes: Turner syndrome and Costello syndrome. A case history.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1486, doi. 10.1002/ajmg.a.35320
- By:
- Publication type:
- Article
Confirmation of the Zechi-Ceide syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1467, doi. 10.1002/ajmg.a.35360
- By:
- Publication type:
- Article
Salivary gland pathology as a new finding in Treacher Collins syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1320, doi. 10.1002/ajmg.a.35331
- By:
- Publication type:
- Article
Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1437, doi. 10.1002/ajmg.a.35342
- By:
- Publication type:
- Article
Discordant monozygotic twins for macrocephaly-capillary malformation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1509, doi. 10.1002/ajmg.a.35382
- By:
- Publication type:
- Article
Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1-22.2.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1381, doi. 10.1002/ajmg.a.35353
- By:
- Publication type:
- Article
Deletion of filamin A in two female patients with periventricular nodular heterotopia.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1512, doi. 10.1002/ajmg.a.35409
- By:
- Publication type:
- Article
Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: A clinical report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1400, doi. 10.1002/ajmg.a.35306
- By:
- Publication type:
- Article
The face signature of fibrodysplasia ossificans progressiva.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1368, doi. 10.1002/ajmg.a.35346
- By:
- Publication type:
- Article
Clarification of intellectual abilities in patients with GLI2 mutations cited by kevelam et al., 2012 Am J med genet part A.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1519, doi. 10.1002/ajmg.a.35317
- By:
- Publication type:
- Article
Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1462, doi. 10.1002/ajmg.a.35357
- By:
- Publication type:
- Article
Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1310, doi. 10.1002/ajmg.a.35328
- By:
- Publication type:
- Article
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1344, doi. 10.1002/ajmg.a.35339
- By:
- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 158A, Number 6, June 2012.
- Published in:
- 2012
- Publication type:
- Other
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1427, doi. 10.1002/ajmg.a.35334
- By:
- Publication type:
- Article
Hornstein-Birt-Hogg-Dubé syndrome: A renaming and reconsideration.
- Published in:
- 2012
- By:
- Publication type:
- Editorial
Germline mosaicism in Cornelia de Lange syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1481, doi. 10.1002/ajmg.a.35381
- By:
- Publication type:
- Article
Long-term survival with diaphanospondylodysostosis (DSD): Survival to 5 years and further phenotypic characteristics.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1447, doi. 10.1002/ajmg.a.35352
- By:
- Publication type:
- Article
Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS).
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1304, doi. 10.1002/ajmg.a.35323
- By:
- Publication type:
- Article
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1414, doi. 10.1002/ajmg.a.35363
- By:
- Publication type:
- Article
Candidate locus analysis for PHACE syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1363, doi. 10.1002/ajmg.a.35341
- By:
- Publication type:
- Article
Mutations of SMAD4 account for both LAPS and Myhre syndromes.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1520, doi. 10.1002/ajmg.a.35374
- By:
- Publication type:
- Article
Growth hormone secretion and its effect on height in pediatric patients with different genotypes of Prader-Willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1477, doi. 10.1002/ajmg.a.35378
- By:
- Publication type:
- Article
Electronic family health history records draw attention.
- Published in:
- 2012
- Publication type:
- Other
Book review: Developmental Biology Ed 9 by SF, Gilbert MA, Sunderland Sinauer Associates. ISBN: 978-0-87893-384-6.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1517, doi. 10.1002/ajmg.a.35316
- By:
- Publication type:
- Article
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1455, doi. 10.1002/ajmg.a.35356
- By:
- Publication type:
- Article
Ambiguous genitalia: What prenatal genetic testing is practical?
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1337, doi. 10.1002/ajmg.a.35338
- By:
- Publication type:
- Article
Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1442, doi. 10.1002/ajmg.a.35345
- By:
- Publication type:
- Article
Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: A population based study.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1269, doi. 10.1002/ajmg.a.35309
- By:
- Publication type:
- Article
Apparent transmission distortion of a pericentric chromosome one inversion in a large multi-generation pedigree.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1262, doi. 10.1002/ajmg.a.35286
- By:
- Publication type:
- Article
In this issue.
- Published in:
- 2012
- Publication type:
- Other
Women's knowledge, attitudes, and beliefs about Down syndrome: A qualitative research study.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1355, doi. 10.1002/ajmg.a.35340
- By:
- Publication type:
- Article
FG syndrome: The FGS2 locus revisited.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1489, doi. 10.1002/ajmg.a.35322
- By:
- Publication type:
- Article
Aging in Prader-Willi syndrome: Twelve persons over the age of 50 years.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1326, doi. 10.1002/ajmg.a.35333
- By:
- Publication type:
- Article
Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1498, doi. 10.1002/ajmg.a.35344
- By:
- Publication type:
- Article
Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1279, doi. 10.1002/ajmg.a.35315
- By:
- Publication type:
- Article
The idic(15) syndrome: Expanding the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1505, doi. 10.1002/ajmg.a.35366
- By:
- Publication type:
- Article
A co-occurrence of osteogenesis imperfecta type VI and cystinosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1422, doi. 10.1002/ajmg.a.35319
- By:
- Publication type:
- Article
Risk of cancer in relatives of children born with isolated cleft lip and palate.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1503, doi. 10.1002/ajmg.a.35359
- By:
- Publication type:
- Article