Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 7
Results: 56
Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1568, doi. 10.1002/ajmg.a.34028
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- Publication type:
- Article
Adults with congenital heart disease: Patients' knowledge and concerns about inheritance.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1661, doi. 10.1002/ajmg.a.34068
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- Publication type:
- Article
The role of cytomegalovirus in schizencephaly.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1768, doi. 10.1002/ajmg.a.33922
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- Publication type:
- Article
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1716, doi. 10.1002/ajmg.a.34030
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- Publication type:
- Article
A next generation sequencing test.
- Published in:
- 2011
- Publication type:
- Other
The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1536, doi. 10.1002/ajmg.a.34070
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- Publication type:
- Article
Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1729, doi. 10.1002/ajmg.a.34041
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- Article
In memoriam: Charles J. Epstein.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1509, doi. 10.1002/ajmg.a.34126
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- Publication type:
- Article
Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1756, doi. 10.1002/ajmg.a.34052
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- Publication type:
- Article
A novel X-linked phenotype caused by hypomorphic EBP mutations.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1770, doi. 10.1002/ajmg.a.33988
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- Publication type:
- Article
Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1646, doi. 10.1002/ajmg.a.34063
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- Publication type:
- Article
Spectrum of MLL2 ( ALR) mutations in 110 cases of Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1511, doi. 10.1002/ajmg.a.34074
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- Publication type:
- Article
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1616, doi. 10.1002/ajmg.a.34045
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- Publication type:
- Article
Response to 'Lateral Meningocele Syndrome and Hajdu-Cheney Syndrome: Different Disorders With Overlapping Phenotypes' by Gripp.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1775, doi. 10.1002/ajmg.a.34085
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- Publication type:
- Article
Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1759, doi. 10.1002/ajmg.a.34056
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- Publication type:
- Article
Rett syndrome: A study of the face.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1563, doi. 10.1002/ajmg.a.34027
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- Publication type:
- Article
Pseudoxanthoma elasticum: Progress in diagnostics and research towards treatment.
- Published in:
- 2011
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- Publication type:
- Other
Response to Happle a novel X linked phenotype caused by hypomorphic EBP mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1772, doi. 10.1002/ajmg.a.34089
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- Publication type:
- Article
Encephalocraniocutaneous lipomatosis (ECCL): Neuroradiological findings in three patients and a new association with fibrous dysplasia.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1690, doi. 10.1002/ajmg.a.33954
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- Publication type:
- Article
Response to 'The Role of Cytomegalovirus in Schizencephaly' by Spalice et al.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1769, doi. 10.1002/ajmg.a.33925
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- Publication type:
- Article
Cystic fibrosis screening recommended for all women.
- Published in:
- 2011
- Publication type:
- Other
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1597, doi. 10.1002/ajmg.a.34040
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- Publication type:
- Article
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1697, doi. 10.1002/ajmg.a.33976
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- Publication type:
- Article
The 3q29 microdeletion syndrome: Report of three new unrelated patients and in silico 'RNA binding' analysis of the 3q29 region.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1654, doi. 10.1002/ajmg.a.34080
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- Publication type:
- Article
Phenotypic variability of distal 22q11.2 copy number abnormalities.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1623, doi. 10.1002/ajmg.a.34051
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- Publication type:
- Article
Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1740, doi. 10.1002/ajmg.a.34073
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- Publication type:
- Article
De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1706, doi. 10.1002/ajmg.a.34004
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- Publication type:
- Article
Array-CGH study of partial trisomy 9p without mental retardation.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1735, doi. 10.1002/ajmg.a.34044
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- Publication type:
- Article
Trisomy 13 and 18 and quality of life: Treading 'softly'.
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- 2011
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- Publication type:
- Editorial
Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1685, doi. 10.1002/ajmg.a.34055
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- Publication type:
- Article
A patient with apparently reciprocal translocation and cryptic 10p deletion.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1753, doi. 10.1002/ajmg.a.33734
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- Publication type:
- Article
Homozygous PTEN deletion in neuroblastoma arising in a child with Cowden syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1763, doi. 10.1002/ajmg.a.34066
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- Publication type:
- Article
Methotrexate and misoprostol teratogenicity: Further expansion of the clinical manifestations.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1723, doi. 10.1002/ajmg.a.34037
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- Publication type:
- Article
Corrigendum: Fulminant Hepatic Failure Requiring Liver Transplantation in 22q13.3 Deletion Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1776, doi. 10.1002/ajmg.a.34008
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- Publication type:
- Article
Trisomy 18: Experience of a reference hospital from the south of Brazil.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1529, doi. 10.1002/ajmg.a.34088
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- Publication type:
- Article
Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): Report of three affected sibs.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1712, doi. 10.1002/ajmg.a.34019
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- Publication type:
- Article
5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1640, doi. 10.1002/ajmg.a.34059
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- Publication type:
- Article
Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1546, doi. 10.1002/ajmg.a.33902
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- Publication type:
- Article
Table of Contents, Volume 155, Number 7, July 2011.
- Published in:
- 2011
- Publication type:
- Other
Prevalence of sleep problems in Smith-Lemli-Opitz syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1558, doi. 10.1002/ajmg.a.34021
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- Publication type:
- Article
Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1605, doi. 10.1002/ajmg.a.34043
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- Publication type:
- Article
Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1581, doi. 10.1002/ajmg.a.34036
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- Publication type:
- Article
Book review.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1767, doi. 10.1002/ajmg.a.34007
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- Publication type:
- Article
Efficacy of modafinil on excessive daytime sleepiness in Prader-Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1552, doi. 10.1002/ajmg.a.34047
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- Publication type:
- Article
Adults with Rubinstein-Taybi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1680, doi. 10.1002/ajmg.a.34058
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- Publication type:
- Article
Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1574, doi. 10.1002/ajmg.a.34029
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- Publication type:
- Article
In memoriam: Ahmad S. Teebi, 1949-2010.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1507, doi. 10.1002/ajmg.a.34069
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- Publication type:
- Article
A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1745, doi. 10.1002/ajmg.a.34101
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- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 155, Number 7, July 2011.
- Published in:
- 2011
- Publication type:
- Other
In this issue.
- Published in:
- 2011
- Publication type:
- Other