Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 11
Results: 52
Table of Contents, Volume 155, Number 11, November 2011.
- Published in:
- 2011
- Publication type:
- Other
NIH to include children's genomic data in electronic medical records.
- Published in:
- 2011
- Publication type:
- Other
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2746, doi. 10.1002/ajmg.a.34270
- By:
- Publication type:
- Article
Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2807, doi. 10.1002/ajmg.a.34241
- By:
- Publication type:
- Article
Rhombencephalosynapsis is a malformation deserving of further study.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2902, doi. 10.1002/ajmg.a.34281
- By:
- Publication type:
- Article
Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2688, doi. 10.1002/ajmg.a.34252
- By:
- Publication type:
- Article
Christianson syndrome in a patient with an interstitial Xq26.3 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2771, doi. 10.1002/ajmg.a.34230
- By:
- Publication type:
- Article
Qualitative assessment of study materials and communication strategies used in studies that include DNA collection.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2721, doi. 10.1002/ajmg.a.34263
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- Publication type:
- Article
Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2788, doi. 10.1002/ajmg.a.34234
- By:
- Publication type:
- Article
MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2739, doi. 10.1002/ajmg.a.34274
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- Publication type:
- Article
Ectopia lentis as the presenting and primary feature in Marfan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2661, doi. 10.1002/ajmg.a.34245
- By:
- Publication type:
- Article
The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2641, doi. 10.1002/ajmg.a.34285
- By:
- Publication type:
- Article
Progressive leukoencephalopathy with intracranial calcification, congenital deafness, and developmental deterioration.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2832, doi. 10.1002/ajmg.a.34256
- By:
- Publication type:
- Article
Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2766, doi. 10.1002/ajmg.a.34227
- By:
- Publication type:
- Article
Genetic contribution of bicuspid aortic valve morphology.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2897, doi. 10.1002/ajmg.a.34278
- By:
- Publication type:
- Article
Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations.
- Published in:
- 2011
- By:
- Publication type:
- Other
De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2879, doi. 10.1002/ajmg.a.34289
- By:
- Publication type:
- Article
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2754, doi. 10.1002/ajmg.a.34168
- By:
- Publication type:
- Article
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2801, doi. 10.1002/ajmg.a.34240
- By:
- Publication type:
- Article
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2609, doi. 10.1002/ajmg.a.34325
- By:
- Publication type:
- Article
Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2821, doi. 10.1002/ajmg.a.34251
- By:
- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 155, Number 11, November 2011.
- Published in:
- 2011
- Publication type:
- Other
Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2784, doi. 10.1002/ajmg.a.34233
- By:
- Publication type:
- Article
Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2626, doi. 10.1002/ajmg.a.34284
- By:
- Publication type:
- Article
Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2826, doi. 10.1002/ajmg.a.34255
- By:
- Publication type:
- Article
A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2795, doi. 10.1002/ajmg.a.34237
- By:
- Publication type:
- Article
Genetic contribution to bicuspid aortic valve morphology.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2899, doi. 10.1002/ajmg.a.34277
- By:
- Publication type:
- Article
Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2681, doi. 10.1002/ajmg.a.34248
- By:
- Publication type:
- Article
Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2750, doi. 10.1002/ajmg.a.34031
- By:
- Publication type:
- Article
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: Two new families with a mutation in the C2orf37 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2647, doi. 10.1002/ajmg.a.34219
- By:
- Publication type:
- Article
Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2841, doi. 10.1002/ajmg.a.34259
- By:
- Publication type:
- Article
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2885, doi. 10.1002/ajmg.a.34299
- By:
- Publication type:
- Article
In this issue.
- Published in:
- 2011
- Publication type:
- Other
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2713, doi. 10.1002/ajmg.a.34261
- By:
- Publication type:
- Article
Deletion and duplication of 11p13-11p14: Reciprocal aberrations derived from a paternal insertion.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2775, doi. 10.1002/ajmg.a.34232
- By:
- Publication type:
- Article
Birth history, physical characteristics, and medical conditions in long-term survivors with full trisomy 13.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2634, doi. 10.1002/ajmg.a.34283
- By:
- Publication type:
- Article
Persistence of a monosomic cell line in a fetus with mosaic trisomy 8.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2791, doi. 10.1002/ajmg.a.34236
- By:
- Publication type:
- Article
Congenital diaphragmatic hernia in Smith-Magenis syndrome: A possible locus at chromosome 17p11.2.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2816, doi. 10.1002/ajmg.a.34247
- By:
- Publication type:
- Article
Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2865, doi. 10.1002/ajmg.a.34269
- By:
- Publication type:
- Article
Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons-Bianchi syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2762, doi. 10.1002/ajmg.a.34188
- By:
- Publication type:
- Article
Legal battle over BRCA1 and BRCA2 patents continues.
- Published in:
- 2011
- Publication type:
- Other
Correlation of intercentromeric distance, mosaicism, and sexual phenotype: Molecular localization of breakpoints in isodicentric Y chromosomes.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2705, doi. 10.1002/ajmg.a.34260
- By:
- Publication type:
- Article
Corrigendum to '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. 11, p. 2903, doi. 10.1002/ajmg.a.34231
- By:
- Publication type:
- Article
Adrenal function in Smith-Lemli-Opitz syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2732, doi. 10.1002/ajmg.a.34271
- By:
- Publication type:
- Article
Craniofacial morphology in patients with hypophosphatemic rickets: A cephalometric study focusing on differences between bone of cartilaginous and intramembranous origin.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2654, doi. 10.1002/ajmg.a.34242
- By:
- Publication type:
- Article
ZIC2 mutations are seen in holoprosencephaly and not partial rhombencephalosynapsis.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2901, doi. 10.1002/ajmg.a.34282
- By:
- Publication type:
- Article
Chromosomal anomalies in the etiology of anorectal malformations: A review.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2692, doi. 10.1002/ajmg.a.34253
- By:
- Publication type:
- Article
Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2855, doi. 10.1002/ajmg.a.34264
- By:
- Publication type:
- Article
Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2871, doi. 10.1002/ajmg.a.34286
- By:
- Publication type:
- Article
New case of Primrose syndrome with mild intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2838, doi. 10.1002/ajmg.a.34257
- By:
- Publication type:
- Article