Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 12
Results: 58
Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3153, doi. 10.1002/ajmg.a.34327
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- Publication type:
- Article
A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2970, doi. 10.1002/ajmg.a.34309
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- Publication type:
- Article
The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3054, doi. 10.1002/ajmg.a.34275
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- Article
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2956, doi. 10.1002/ajmg.a.34297
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- Publication type:
- Article
ASD is an incorrect abbreviation for autism spectrum disorders.
- Published in:
- 2011
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- Publication type:
- Editorial
Craniofacial and oral features of Sotos syndrome: Differences in patients with submicroscopic deletion and mutation of NSD1 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2933, doi. 10.1002/ajmg.a.33969
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- Publication type:
- Article
Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: Phenotypic and genotypic findings.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3075, doi. 10.1002/ajmg.a.34300
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- Publication type:
- Article
Gene patent pool set to launch.
- Published in:
- 2011
- Publication type:
- Other
A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3144, doi. 10.1002/ajmg.a.34311
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- Publication type:
- Article
Minimal genotype-phenotype correlation for small deletions within distal 1p36.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3164, doi. 10.1002/ajmg.a.34333
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- Publication type:
- Article
Two large-scale surveys on community attitudes toward an opt-out biobank.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2982, doi. 10.1002/ajmg.a.34304
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- Publication type:
- Article
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3095, doi. 10.1002/ajmg.a.34326
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- Publication type:
- Article
Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.
- Published in:
- 2011
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- Publication type:
- Other
Abbreviations and terminology surrounding autism spectrum disorders and intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2905, doi. 10.1002/ajmg.a.34319
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- Publication type:
- Article
A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH).
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3071, doi. 10.1002/ajmg.a.34296
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- Publication type:
- Article
Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2925, doi. 10.1002/ajmg.a.33858
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- Publication type:
- Article
Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3025, doi. 10.1002/ajmg.a.33784
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- Publication type:
- Article
Short stature due to 15q26 microdeletion involving IGF1R: Report of an additional case and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3139, doi. 10.1002/ajmg.a.34310
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- Publication type:
- Article
Vascular Ehlers-Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3090, doi. 10.1002/ajmg.a.34332
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- Publication type:
- Article
The mall test (or fun with a dysmorphologist).
- Published in:
- 2011
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- Publication type:
- Other
Objective assessment of nasality in flemish adults with neurofibromatosis type 1.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2974, doi. 10.1002/ajmg.a.34314
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- Publication type:
- Article
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3067, doi. 10.1002/ajmg.a.34291
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- Publication type:
- Article
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3002, doi. 10.1002/ajmg.a.34336
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- Publication type:
- Article
A de novo 3.54 Mb deletion of 17q22-q23.1 associated with hydrocephalus: A case report and review of literature.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3082, doi. 10.1002/ajmg.a.34307
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- Publication type:
- Article
Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3087, doi. 10.1002/ajmg.a.34318
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- Publication type:
- Article
Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3007, doi. 10.1002/ajmg.a.34329
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- Publication type:
- Article
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3125, doi. 10.1002/ajmg.a.34295
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- Publication type:
- Article
Clinical manifestations and management of four children with Pearson syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3063, doi. 10.1002/ajmg.a.34288
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- Publication type:
- Article
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3160, doi. 10.1002/ajmg.a.34331
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- Publication type:
- Article
Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2964, doi. 10.1002/ajmg.a.34302
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- Publication type:
- Article
Mental retardation or intellectual disability? Time for a change.
- Published in:
- 2011
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- Publication type:
- Editorial
Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2997, doi. 10.1002/ajmg.a.34324
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- Publication type:
- Article
Table of Contents, Volume 155, Number 12, December 2011.
- Published in:
- 2011
- Publication type:
- Other
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3104, doi. 10.1002/ajmg.a.34335
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- Publication type:
- Article
Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3136, doi. 10.1002/ajmg.a.34306
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- Publication type:
- Article
Identification and characterization of a complex pure mosaic of small supernumerary marker chromosomes involving 11p11.12 → q12.1 and 19p12 → q12 regions in a child featuring multiple congenital anomalies.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3116, doi. 10.1002/ajmg.a.34346
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- Publication type:
- Article
8p21 microdeletion in a patient with intellectual disability and behavioral abnormalities.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3148, doi. 10.1002/ajmg.a.34317
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- Publication type:
- Article
Erratum to 'Pseudoxanthoma Elasticum: Progress in Diagnostics and Research Towards Treatment Summary of the 2010 PXE International Research Meeting' Volume 155, Issue 7, July 2011, Pages: 1517-1526 Article First Published Online: 10 Jun 2011, DOI: 10.1002/ajmg.a.34067
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3176, doi. 10.1002/ajmg.a.34243
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- Publication type:
- Article
Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research.
- Published in:
- 2011
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- Publication type:
- Editorial
A newborn with overlapping features of AEC and EEC syndromes.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3100, doi. 10.1002/ajmg.a.34328
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- Publication type:
- Article
Biological and epidemiological evidence of interaction of infant genotypes at Rs7205289 and maternal passive smoking in cleft palate.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2940, doi. 10.1002/ajmg.a.34254
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- Publication type:
- Article
Oculo-ectodermal syndrome: Report of a case with mosaicism for a deletion on Xq12.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3122, doi. 10.1002/ajmg.a.34294
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- Publication type:
- Article
Genetic alliance marks 25 years.
- Published in:
- 2011
- Publication type:
- Other
Patterns of prenatal alcohol exposure and associated non-characteristic minor structural malformations: A prospective study.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2949, doi. 10.1002/ajmg.a.34276
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- Publication type:
- Article
Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3042, doi. 10.1002/ajmg.a.34173
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- Publication type:
- Article
Ablepharon-Macrostomia syndrome-Extension of the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3060, doi. 10.1002/ajmg.a.34287
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- Publication type:
- Article
A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3128, doi. 10.1002/ajmg.a.34298
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- Publication type:
- Article
Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3030, doi. 10.1002/ajmg.a.33856
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- Publication type:
- Article
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3050, doi. 10.1002/ajmg.a.34199
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- Publication type:
- Article
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3035, doi. 10.1002/ajmg.a.34078
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- Publication type:
- Article