Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 7
Results: 55
Scoliosis in Prader-Willi syndrome: Effect of growth hormone therapy and value of paravertebral muscle volume by CT in predicting scoliosis progression.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1628, doi. 10.1002/ajmg.a.35429
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- Publication type:
- Article
Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1798, doi. 10.1002/ajmg.a.35420
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- Publication type:
- Article
Corrigendum to 'Elements of Morphology: Standard Terminology for the Hands and Feet. Am J Med Genet 2009 149A:93-127'.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1813, doi. 10.1002/ajmg.a.35326
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- Publication type:
- Article
Complex genomic rearrangement in the SOX9 5′ region in a patient with Pierre Robin sequence and hypoplastic left scapula.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1529, doi. 10.1002/ajmg.a.35308
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- Publication type:
- Article
Germline mosacism in Shprintzen-Goldberg syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1574, doi. 10.1002/ajmg.a.35388
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- Publication type:
- Article
Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1579, doi. 10.1002/ajmg.a.35399
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- Publication type:
- Article
In this issue.
- Published in:
- 2012
- Publication type:
- Other
Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1662, doi. 10.1002/ajmg.a.35377
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- Publication type:
- Article
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1771, doi. 10.1002/ajmg.a.35431
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- Publication type:
- Article
Homozygous SMN1 exons 1-6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1735, doi. 10.1002/ajmg.a.35402
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- Publication type:
- Article
A mixed-methods investigation of sensory response patterns in Barth syndrome: A clinical phenotype?
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1647, doi. 10.1002/ajmg.a.35413
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- Publication type:
- Article
Body stalk anomaly in Denmark during 20 years (1970-1989).
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1702, doi. 10.1002/ajmg.a.35394
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- Publication type:
- Article
XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1759, doi. 10.1002/ajmg.a.35390
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- Publication type:
- Article
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1719, doi. 10.1002/ajmg.a.35406
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- Publication type:
- Article
A benign form of congenital anterolateral bowing of the tibia associated with ipsilateral polydactyly of the hallux: Case report and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1742, doi. 10.1002/ajmg.a.35417
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- Publication type:
- Article
Phenotypic progression of skeletal anomalies in CLOVES syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1690, doi. 10.1002/ajmg.a.35383
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- Publication type:
- Article
Progressive polyepiphyseal dysplasia with arthropathy: A distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia?
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1754, doi. 10.1002/ajmg.a.35424
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- Publication type:
- Article
Three new patients with FATCO: Fibular agenesis with ectrodactyly.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1542, doi. 10.1002/ajmg.a.35369
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- Publication type:
- Article
Survey of health status and complications among propionic acidemia patients.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1641, doi. 10.1002/ajmg.a.35387
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- Publication type:
- Article
Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1709, doi. 10.1002/ajmg.a.35398
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- Publication type:
- Article
Myriad case heads back to Court of Appeals.
- Published in:
- 2012
- Publication type:
- Other
Table of Contents, Volume 158A, Number 7, July 2012.
- Published in:
- 2012
- Publication type:
- Other
A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1686, doi. 10.1002/ajmg.a.35371
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- Publication type:
- Article
Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationships.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1612, doi. 10.1002/ajmg.a.35401
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- Publication type:
- Article
Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1724, doi. 10.1002/ajmg.a.35412
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- Publication type:
- Article
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1633, doi. 10.1002/ajmg.a.35423
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- Publication type:
- Article
Duplication of 18q21.32-q22.3 identified in a stillborn and two relatives with minimal dysmorphic features.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1788, doi. 10.1002/ajmg.a.35405
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- Publication type:
- Article
The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions.
- Published in:
- 2012
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- Publication type:
- Editorial
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1793, doi. 10.1002/ajmg.a.35416
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- Publication type:
- Article
De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1765, doi. 10.1002/ajmg.a.35427
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- Publication type:
- Article
Book Review: A Guide to Cancer Genetics in Clinical Practice, edited by Sue Clark.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1811, doi. 10.1002/ajmg.a.35393
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- Publication type:
- Article
Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1670, doi. 10.1002/ajmg.a.35335
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- Publication type:
- Article
RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1782, doi. 10.1002/ajmg.a.35386
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- Publication type:
- Article
1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: Dissecting the phenotype.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1535, doi. 10.1002/ajmg.a.35368
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- Publication type:
- Article
Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1556, doi. 10.1002/ajmg.a.35379
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- Publication type:
- Article
The tricky matter of secondary genomic findings.
- Published in:
- 2012
- Publication type:
- Other
American Journal of Medical Genetics Part A: Volume 158A, Number 7, July 2012.
- Published in:
- 2012
- Publication type:
- Other
Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1713, doi. 10.1002/ajmg.a.35400
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- Publication type:
- Article
Sirenomelia and cyclopia in the same patient after a cluster of cyclopia and sirenomelia in Cali (South America).
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1808, doi. 10.1002/ajmg.a.35411
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- Publication type:
- Article
Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1750, doi. 10.1002/ajmg.a.35422
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- Publication type:
- Article
Sirenomelia and caudal malformations in two families.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1801, doi. 10.1002/ajmg.a.35408
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- Publication type:
- Article
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1604, doi. 10.1002/ajmg.a.35419
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- Publication type:
- Article
Supernumerary marker chromosomes derived from chromosome 6: Cytogenetic, molecular cytogenetic, and array CGH characterization.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1568, doi. 10.1002/ajmg.a.35385
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- Publication type:
- Article
Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1676, doi. 10.1002/ajmg.a.35351
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- Publication type:
- Article
Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1680, doi. 10.1002/ajmg.a.35367
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- Publication type:
- Article
Finlay-Marks syndrome: Report of two siblings and review of literature.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1696, doi. 10.1002/ajmg.a.35389
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- Publication type:
- Article
Facial phenotype at different ages and cardiovascular malformations in children with Williams-Beuren syndrome: A study from India.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1729, doi. 10.1002/ajmg.a.35443
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- Publication type:
- Article
In memoriam: Eric Engel, M.D., an innovator, mentor, and humanist.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1526, doi. 10.1002/ajmg.a.35380
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- Publication type:
- Article
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1654, doi. 10.1002/ajmg.a.35396
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- Publication type:
- Article
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1785, doi. 10.1002/ajmg.a.35391
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- Publication type:
- Article