Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 6
Results: 53
Significant liver disease in a patient with Y116H mutation in the MVK gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1461, doi. 10.1002/ajmg.a.33915
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- Article
Additional features of unique Primrose syndrome phenotype.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1379, doi. 10.1002/ajmg.a.33955
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- Article
A new case of maternal lupus-associated chondrodysplasia punctata with extensive spinal anomalies.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1487, doi. 10.1002/ajmg.a.33995
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- Article
Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: Report of four new cases with renal involvement.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1393, doi. 10.1002/ajmg.a.33966
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- Article
Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1419, doi. 10.1002/ajmg.a.34001
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- Article
Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1472, doi. 10.1002/ajmg.a.33977
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- Article
Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: When more is less.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1437, doi. 10.1002/ajmg.a.34012
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- Article
Corrigendum to 'Versteegh FGA, Buma SA, Costin G, Jong WC de, Hennekam RCM, EvC Working Party: 2007. Growth hormone analysis and treatment in Ellis-van Creveld syndrome. Am J Med Genet Part A 143A:2113-2121'.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1505, doi. 10.1002/ajmg.a.33948
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- Article
Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1384, doi. 10.1002/ajmg.a.33959
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- Article
Anatomic and etiological classification of congenital limb deficiencies.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1225, doi. 10.1002/ajmg.a.33999
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- Article
Noninvasive prenatal tests for Down syndrome are near.
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- 2011
- Publication type:
- Other
A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1453, doi. 10.1002/ajmg.a.34034
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- Article
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1272, doi. 10.1002/ajmg.a.33878
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- Article
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1236, doi. 10.1002/ajmg.a.34009
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- Article
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1336, doi. 10.1002/ajmg.a.34049
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- Article
Extending the phenotype of lethal skeletal dysplasia type al Gazali.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1404, doi. 10.1002/ajmg.a.33990
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- Publication type:
- Article
Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1390, doi. 10.1002/ajmg.a.33961
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- Article
GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1281, doi. 10.1002/ajmg.a.33932
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- Article
In this issue.
- Published in:
- 2011
- Publication type:
- Other
Cerebroretinal microangiopathy with calcifications and cysts: Characterization of the skeletal phenotype.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1322, doi. 10.1002/ajmg.a.33994
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- Article
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1432, doi. 10.1002/ajmg.a.34011
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- Article
Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1217, doi. 10.1002/ajmg.a.33987
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- Article
Type 1 collagenopathy presenting with a Russell-Silver phenotype.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1414, doi. 10.1002/ajmg.a.33998
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- Article
TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1442, doi. 10.1002/ajmg.a.34015
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- Article
Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: Report of a new case and further delineation of a new syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1458, doi. 10.1002/ajmg.a.34048
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- Article
Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1264, doi. 10.1002/ajmg.a.33583
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- Article
Age related change in social behavior in children with Angelman syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1290, doi. 10.1002/ajmg.a.33964
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- Article
Table of Contents, Volume 155, Number 6, June 2011.
- Published in:
- 2011
- Publication type:
- Other
Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1465, doi. 10.1002/ajmg.a.33935
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- Article
A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1425, doi. 10.1002/ajmg.a.34010
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- Publication type:
- Article
Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: An association with Hunter-McAlpine syndrome?
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1409, doi. 10.1002/ajmg.a.33997
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- Publication type:
- Article
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1352, doi. 10.1002/ajmg.a.33894
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- Article
Cancer predisposition in children with Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1504, doi. 10.1002/ajmg.a.33711
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- Publication type:
- Article
Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1492, doi. 10.1002/ajmg.a.34003
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- Article
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1448, doi. 10.1002/ajmg.a.34025
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- Article
Balanced information about Down syndrome: What is essential?
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1246, doi. 10.1002/ajmg.a.34018
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- Article
Craniorachischisis and omphalocele in a stillborn cynomolgus monkey ( Macaca fascicularis).
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1367, doi. 10.1002/ajmg.a.33627
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- Article
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1298, doi. 10.1002/ajmg.a.33970
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- Publication type:
- Article
Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1476, doi. 10.1002/ajmg.a.33981
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- Article
Book review.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1503, doi. 10.1002/ajmg.a.33912
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- Article
A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1285, doi. 10.1002/ajmg.a.33963
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- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 155, Number 6, June 2011.
- Published in:
- 2011
- Publication type:
- Other
Lethal presentation of neurofibromatosis and Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1360, doi. 10.1002/ajmg.a.33996
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- Publication type:
- Article
High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome).
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1329, doi. 10.1002/ajmg.a.34013
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- Article
Obesity in pycnodysostosis due to UPD1: Possible effect of an imprinted gene on chromosome 1.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1483, doi. 10.1002/ajmg.a.33989
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- Publication type:
- Article
Coming soon: NIH genetic test registry.
- Published in:
- 2011
- Publication type:
- Other
A patient with Keipert syndrome and isolated fibrous dysplasia of the sphenoid sinus.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1496, doi. 10.1002/ajmg.a.34006
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- Article
A remarkable APC mosaicism with two mutant alleles in a family with familial adenomatous polyposis.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1500, doi. 10.1002/ajmg.a.34017
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- Article
Understanding physicians' attitudes toward people with Down syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1258, doi. 10.1002/ajmg.a.34039
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- Article
Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1374, doi. 10.1002/ajmg.a.33769
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- Article