Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 9
Results: 56
A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2224, doi. 10.1002/ajmg.a.34120
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- Publication type:
- Article
Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2274, doi. 10.1002/ajmg.a.34160
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- Publication type:
- Article
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2196, doi. 10.1002/ajmg.a.34131
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- Publication type:
- Article
Physical health problems in adults with Prader-Willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2112, doi. 10.1002/ajmg.a.34171
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- Publication type:
- Article
A new case of HDR syndrome with severe female genital tract malformation: Comment on 'Novel Mutation in the Gene Encoding the GATA3 Transcription Factor in a Spanish Familial Case of Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome With Female Genital Tract Malformations' by Hernández et al.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2329, doi. 10.1002/ajmg.a.34153
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- Publication type:
- Article
In this issue.
- Published in:
- 2011
- Publication type:
- Other
The clinical delineation of malformation syndromes: Historical prospective and future direction.
- Published in:
- 2011
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- Publication type:
- Editorial
Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2125, doi. 10.1002/ajmg.a.34050
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- Publication type:
- Article
Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2293, doi. 10.1002/ajmg.a.34164
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- Publication type:
- Article
The Niemann-Pick C1 gene interacts with a high-fat diet and modifying genes to promote weight gain.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2317, doi. 10.1002/ajmg.a.34135
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- Publication type:
- Article
Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT).
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2257, doi. 10.1002/ajmg.a.34146
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- Publication type:
- Article
Wilms tumor incidence in children with 2q terminal deletions: A cohort study.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2221, doi. 10.1002/ajmg.a.34117
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- Publication type:
- Article
Automated syndrome detection in a set of clinical facial photographs.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2161, doi. 10.1002/ajmg.a.34157
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- Publication type:
- Article
Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS).
- Published in:
- 2011
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- Publication type:
- Other
Potential teratogenic effects of allopurinol: A case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2247, doi. 10.1002/ajmg.a.34139
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- Publication type:
- Article
Table of Contents, Volume 155, Number 9, September 2011.
- Published in:
- 2011
- Publication type:
- Other
Maternal age and prevalence of isolated congenital heart defects in an urban area of the United States.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2137, doi. 10.1002/ajmg.a.34130
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- Publication type:
- Article
Different roles of two novel susceptibility loci for nonsyndromic orofacial clefts in a Chinese Han population.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2180, doi. 10.1002/ajmg.a.34170
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- Publication type:
- Article
Chromosome 22q11.2 deletion syndrome in African-American patients: A diagnostic challenge.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2186, doi. 10.1002/ajmg.a.34226
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- Publication type:
- Article
Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2269, doi. 10.1002/ajmg.a.34152
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- Publication type:
- Article
A majority of parents accept newborn screening for fragile X.
- Published in:
- 2011
- Publication type:
- Other
Catel-Manzke syndrome: A clinical report suggesting autosomal recessive inheritance.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2288, doi. 10.1002/ajmg.a.34163
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- Publication type:
- Article
Screening for celiac disease in the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2314, doi. 10.1002/ajmg.a.34134
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- Publication type:
- Article
Reproductive success in patients with Hallermann-Streiff syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2311, doi. 10.1002/ajmg.a.34042
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- Publication type:
- Article
Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2105, doi. 10.1002/ajmg.a.34156
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- Publication type:
- Article
Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: A locus associated with Asperger syndrome?
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2308, doi. 10.1002/ajmg.a.34196
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- Publication type:
- Article
Features of basal cell carcinomas in basal cell nevus syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2098, doi. 10.1002/ajmg.a.34127
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- Publication type:
- Article
Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2170, doi. 10.1002/ajmg.a.34167
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- Publication type:
- Article
The real tiger mother: From the clinical geneticist's perspective.
- Published in:
- 2011
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- Publication type:
- Other
Microcephaly-capillary malformation syndrome: A story of rapid emergence of a new recognizable entity.
- Published in:
- 2011
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- Publication type:
- Editorial
Furthering the link between the sarcomere and primary cardiomyopathies: Restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2229, doi. 10.1002/ajmg.a.34097
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- Publication type:
- Article
Possible case of sirenomelia in the Tumaco-Tolita pottery pre-Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali-Colombia.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2327, doi. 10.1002/ajmg.a.32923
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- Publication type:
- Article
Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2253, doi. 10.1002/ajmg.a.34140
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- Publication type:
- Article
Response to Kouwenberg et al. 'Recognizable Phenotype With Common Occurrence of Microcephaly, Psychomotor Retardation, But No Spontaneous Bone Fractures in ARCL2B Due to PYCR1 Mutations'.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2333, doi. 10.1002/ajmg.a.34151
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- Publication type:
- Article
State administrative data can aid long-term newborn follow-up, researchers report.
- Published in:
- 2011
- Publication type:
- Other
Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: Molecular characterization of two der(11)t(11;16).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2281, doi. 10.1002/ajmg.a.34162
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- Publication type:
- Article
Conflicts regarding genetic counseling for fragile X syndrome screening: A survey of clinical geneticists and genetic counselors in Israel.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2154, doi. 10.1002/ajmg.a.34155
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- Publication type:
- Article
Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8 M base interval.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2212, doi. 10.1002/ajmg.a.33908
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- Publication type:
- Article
Mild Tessier No. 7 cleft with PHACE syndrome: The case for pulmonary vascular steal.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2298, doi. 10.1002/ajmg.a.34166
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- Publication type:
- Article
Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2146, doi. 10.1002/ajmg.a.34137
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- Publication type:
- Article
Clinical pre- and postnatal (step-by-step) history of a boy with unbalanced translocation-t(3;15)(q26.33;q26.1).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2320, doi. 10.1002/ajmg.a.34148
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- Publication type:
- Article
A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability.
- Published in:
- 2011
- By:
- Publication type:
- Other
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2263, doi. 10.1002/ajmg.a.34150
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- Publication type:
- Article
Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2045, doi. 10.1002/ajmg.a.34161
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- Publication type:
- Article
Familial cardiac valvulopathy due to filamin A mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2236, doi. 10.1002/ajmg.a.34132
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- Publication type:
- Article
Editorial comment on 'Whole Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria'.
- Published in:
- 2011
- By:
- Publication type:
- Editorial
Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2331, doi. 10.1002/ajmg.a.34154
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- Publication type:
- Article
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2131, doi. 10.1002/ajmg.a.34125
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- Publication type:
- Article
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2071, doi. 10.1002/ajmg.a.34165
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- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 155, Number 9, September 2011.
- Published in:
- 2011
- Publication type:
- Other