Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 4
Results: 50
Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 915, doi. 10.1002/ajmg.a.33924
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- Publication type:
- Article
Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3′ end of the FBN1 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 717, doi. 10.1002/ajmg.a.33906
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- Publication type:
- Article
A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 935, doi. 10.1002/ajmg.a.33872
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- Publication type:
- Article
Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 805, doi. 10.1002/ajmg.a.33917
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- Publication type:
- Article
Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 924, doi. 10.1002/ajmg.a.33740
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- Article
American Journal of Medical Genetics Part A: Volume 155, Number 4, April 2011.
- Published in:
- 2011
- Publication type:
- Other
UPD detection using homozygosity profiling with a SNP genotyping microarray.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 757, doi. 10.1002/ajmg.a.33939
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- Article
A comparison of the background, needs, and expectations of patients seeking genetic counseling services.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 697, doi. 10.1002/ajmg.a.33979
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- Publication type:
- Article
A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 833, doi. 10.1002/ajmg.a.33876
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- Publication type:
- Article
Spondylometaphyseal dysplasia with cone-rod dystrophy.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 845, doi. 10.1002/ajmg.a.33898
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- Publication type:
- Article
Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 825, doi. 10.1002/ajmg.a.33869
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- Publication type:
- Article
Corrigendum.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 942, doi. 10.1002/ajmg.a.33304
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- Publication type:
- Article
Mutational analysis of PACT gene in Chinese patients with microtia.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 906, doi. 10.1002/ajmg.a.32821
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- Publication type:
- Article
Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 855, doi. 10.1002/ajmg.a.33901
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- Publication type:
- Article
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 892, doi. 10.1002/ajmg.a.33923
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- Publication type:
- Article
An additional patient with mycophenolate mofetil embryopathy: Cardiac and facial analyses.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 748, doi. 10.1002/ajmg.a.33934
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- Publication type:
- Article
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 721, doi. 10.1002/ajmg.a.33905
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- Publication type:
- Article
A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 938, doi. 10.1002/ajmg.a.33871
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- Publication type:
- Article
Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 819, doi. 10.1002/ajmg.a.33916
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- Publication type:
- Article
Prevalence and patterns of choanal atresia and choanal stenosis among pregnancies in Texas, 1999-2004.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 786, doi. 10.1002/ajmg.a.33882
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- Publication type:
- Article
AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 898, doi. 10.1002/ajmg.a.33927
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- Publication type:
- Article
Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 903, doi. 10.1002/ajmg.a.33835
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- Publication type:
- Article
Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 928, doi. 10.1002/ajmg.a.33817
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- Publication type:
- Article
Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?
- Published in:
- 2011
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- Publication type:
- Other
Infantile cardioencephalopathy due to a COX15 gene defect: Report and review.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 840, doi. 10.1002/ajmg.a.33881
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- Publication type:
- Article
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 880, doi. 10.1002/ajmg.a.33879
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- Publication type:
- Article
Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 850, doi. 10.1002/ajmg.a.33900
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- Publication type:
- Article
Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 815, doi. 10.1002/ajmg.a.33911
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- Publication type:
- Article
A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 ( LIS1) gene.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 875, doi. 10.1002/ajmg.a.33944
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- Publication type:
- Article
An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 778, doi. 10.1002/ajmg.a.33870
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- Publication type:
- Article
5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 725, doi. 10.1002/ajmg.a.33758
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- Publication type:
- Article
Pulmonary manifestations in Proteus syndrome: Pulmonary varicosities and bullous lung disease.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 865, doi. 10.1002/ajmg.a.33926
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- Publication type:
- Article
Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 769, doi. 10.1002/ajmg.a.33852
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- Publication type:
- Article
Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome).
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 940, doi. 10.1002/ajmg.a.33937
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- Publication type:
- Article
Comparison of the background, needs, and expectations for genetic counseling of adults with experience with Down syndrome, Marfan syndrome, and neurofibromatosis.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 684, doi. 10.1002/ajmg.a.33863
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- Publication type:
- Article
A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 931, doi. 10.1002/ajmg.a.33834
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- Publication type:
- Article
Study newsletters, community and ethics advisory boards, and focus group discussions provide ongoing feedback for a large biobank.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 737, doi. 10.1002/ajmg.a.33896
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- Publication type:
- Article
Development of a scale to assess the background, needs, and expectations of genetic counseling clients.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 673, doi. 10.1002/ajmg.a.33610
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- Publication type:
- Article
Human equivalent of mouse disorganization: Has the case been made?
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 792, doi. 10.1002/ajmg.a.33910
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- Publication type:
- Article
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 860, doi. 10.1002/ajmg.a.33903
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- Publication type:
- Article
Ehlers-Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 742, doi. 10.1002/ajmg.a.33914
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- Publication type:
- Article
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 732, doi. 10.1002/ajmg.a.33891
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- Publication type:
- Article
Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 870, doi. 10.1002/ajmg.a.33936
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- Publication type:
- Article
Congenital isolated leukonychia totalis in three Egyptian sibs.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 811, doi. 10.1002/ajmg.a.33907
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- Publication type:
- Article
Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 885, doi. 10.1002/ajmg.a.33918
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- Publication type:
- Article
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 706, doi. 10.1002/ajmg.a.33884
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- Publication type:
- Article
An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 920, doi. 10.1002/ajmg.a.33929
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- Publication type:
- Article
Table of Contents, Volume 155, Number 4, April 2011.
- Published in:
- 2011
- Publication type:
- Other
Then and now: Past Opitz winners discuss the influence of the award on their careers.
- Published in:
- 2011
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- Publication type:
- Other
Ring 21 chromosome presenting with epilepsy and intellectual disability: Clinical report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 911, doi. 10.1002/ajmg.a.33899
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- Publication type:
- Article