Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 4
Results: 47
Table of Contents, Volume 158A, Number 4, April 2012.
- Published in:
- 2012
- Publication type:
- Other
Balanced complex chromosome rearrangements: Reproductive aspects. A review.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 947, doi. 10.1002/ajmg.a.35220
- By:
- Publication type:
- Article
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 927, doi. 10.1002/ajmg.a.35231
- By:
- Publication type:
- Article
Calcifying leukoencephalopathies: New overlapping phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 964, doi. 10.1002/ajmg.a.35242
- By:
- Publication type:
- Article
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 832, doi. 10.1002/ajmg.a.34133
- By:
- Publication type:
- Article
A second case of contractures, webbed neck, micrognathia, hypoplastic nipples, and distinctive facial features: Confirmation of the Dinno syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 836, doi. 10.1002/ajmg.a.35224
- By:
- Publication type:
- Article
Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 909, doi. 10.1002/ajmg.a.35264
- By:
- Publication type:
- Article
Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 861, doi. 10.1002/ajmg.a.35235
- By:
- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 158A, Number 4, April 2012.
- Published in:
- 2012
- Publication type:
- Other
Autism testing service includes telephone counseling.
- Published in:
- 2012
- Publication type:
- Other
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 732, doi. 10.1002/ajmg.a.35228
- By:
- Publication type:
- Article
Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 821, doi. 10.1002/ajmg.a.32988
- By:
- Publication type:
- Article
De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 882, doi. 10.1002/ajmg.a.35239
- By:
- Publication type:
- Article
Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 922, doi. 10.1002/ajmg.a.34440
- By:
- Publication type:
- Article
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 784, doi. 10.1002/ajmg.a.35257
- By:
- Publication type:
- Article
Nine genes that may contribute to partial trisomy (6)(p22→pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 707, doi. 10.1002/ajmg.a.33943
- By:
- Publication type:
- Article
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 795, doi. 10.1002/ajmg.a.35268
- By:
- Publication type:
- Article
Audiological findings in Williams syndrome: A study of 69 patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 759, doi. 10.1002/ajmg.a.35241
- By:
- Publication type:
- Article
Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 713, doi. 10.1002/ajmg.a.34206
- By:
- Publication type:
- Article
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 856, doi. 10.1002/ajmg.a.35234
- By:
- Publication type:
- Article
Researchers use bloodspots to identify genetic hearing loss.
- Published in:
- 2012
- Publication type:
- Other
Hydrocephalus with Hirschsprung disease: Severe end of X-linked hydrocephalus spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 812, doi. 10.1002/ajmg.a.35245
- By:
- Publication type:
- Article
A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 726, doi. 10.1002/ajmg.a.35216
- By:
- Publication type:
- Article
A phenotype map for 14q32.3 terminal deletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 695, doi. 10.1002/ajmg.a.35256
- By:
- Publication type:
- Article
Prenatal testing for Down syndrome: The perspectives of parents of individuals with Down syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 743, doi. 10.1002/ajmg.a.35238
- By:
- Publication type:
- Article
Energy homeostasis in Prader-Willi Syndrome: How clinical research informs studies of animal models of genetic obesity.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 966, doi. 10.1002/ajmg.a.35249
- By:
- Publication type:
- Article
In this issue.
- Published in:
- 2012
- Publication type:
- Other
Risk factors for nonsyndromic holoprosencephaly: A Manitoba case-control study.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 751, doi. 10.1002/ajmg.a.35240
- By:
- Publication type:
- Article
Complete monosomy 21 confirmed by FISH and array-CGH.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 935, doi. 10.1002/ajmg.a.35251
- By:
- Publication type:
- Article
An intellectually disabled patient with the 5q14.3q15 microdeletion syndrome associated with an apparently de novo t(2;5)(q13;q14).
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 942, doi. 10.1002/ajmg.a.35262
- By:
- Publication type:
- Article
The omega-6 fatty acid linoleic acid is associated with risk of gastroschisis: A novel dietary risk factor.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 803, doi. 10.1002/ajmg.a.35204
- By:
- Publication type:
- Article
Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 816, doi. 10.1002/ajmg.a.35244
- By:
- Publication type:
- Article
Neonatal detection of 5p13.2 duplication and delineation of the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 877, doi. 10.1002/ajmg.a.35237
- By:
- Publication type:
- Article
A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 901, doi. 10.1002/ajmg.a.35259
- By:
- Publication type:
- Article
Botulinum toxin injections into salivary glands to decrease oral secretions in CHARGE syndrome: Prospective case study.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 828, doi. 10.1002/ajmg.a.33241
- By:
- Publication type:
- Article
Male sex bias in placental dysfunction.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 779, doi. 10.1002/ajmg.a.35250
- By:
- Publication type:
- Article
Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 938, doi. 10.1002/ajmg.a.35261
- By:
- Publication type:
- Article
Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 850, doi. 10.1002/ajmg.a.35232
- By:
- Publication type:
- Article
Hypothesis: Estrogen related thrombosis explains the pathogenesis and epidemiology of gastroschisis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 808, doi. 10.1002/ajmg.a.35203
- By:
- Publication type:
- Article
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 772, doi. 10.1002/ajmg.a.35243
- By:
- Publication type:
- Article
Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 720, doi. 10.1002/ajmg.a.35214
- By:
- Publication type:
- Article
Expanding the spectrum of rearrangements involving chromosome 19: A mild phenotype associated with a 19p13.12-p13.13 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 888, doi. 10.1002/ajmg.a.35254
- By:
- Publication type:
- Article
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 917, doi. 10.1002/ajmg.a.35265
- By:
- Publication type:
- Article
Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 869, doi. 10.1002/ajmg.a.35236
- By:
- Publication type:
- Article
Acetazolamide for severe apnea in Pitt-Hopkins syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 932, doi. 10.1002/ajmg.a.35247
- By:
- Publication type:
- Article
Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 894, doi. 10.1002/ajmg.a.35258
- By:
- Publication type:
- Article
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 839, doi. 10.1002/ajmg.a.35229
- By:
- Publication type:
- Article