Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 3
Results: 42
American Journal of Medical Genetics Part A: Volume 155, Number 3, March 2011.
- Published in:
- 2011
- Publication type:
- Other
Molecular cytogenetic and clinical characterization of a patient with a 5.6-Mb deletion in 7p15 including HOXA cluster.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 642, doi. 10.1002/ajmg.a.33860
- By:
- Publication type:
- Article
Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 622, doi. 10.1002/ajmg.a.33831
- By:
- Publication type:
- Article
Alu-mediated recombination in the HAX1 gene as the molecular basis of severe congenital neutropenia.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 660, doi. 10.1002/ajmg.a.33893
- By:
- Publication type:
- Article
CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 605, doi. 10.1002/ajmg.a.33787
- By:
- Publication type:
- Article
New test catches most Turner syndrome cases.
- Published in:
- 2011
- By:
- Publication type:
- Other
Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 555, doi. 10.1002/ajmg.a.33874
- By:
- Publication type:
- Article
Associated malformations among infants with neural tube defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 565, doi. 10.1002/ajmg.a.33886
- By:
- Publication type:
- Article
A girl with metopic synostosis and trisomy 13 mosaicism: Case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 638, doi. 10.1002/ajmg.a.33839
- By:
- Publication type:
- Article
Erratum: Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 666, doi. 10.1002/ajmg.a.33949
- By:
- Publication type:
- Article
Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 519, doi. 10.1002/ajmg.a.33446
- By:
- Publication type:
- Article
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 582, doi. 10.1002/ajmg.a.33318
- By:
- Publication type:
- Article
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 486, doi. 10.1002/ajmg.a.33857
- By:
- Publication type:
- Article
Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 508, doi. 10.1002/ajmg.a.33885
- By:
- Publication type:
- Article
Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: Genotype-phenotype correlations.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 618, doi. 10.1002/ajmg.a.33816
- By:
- Publication type:
- Article
A new case of de novo translocation (12;17;18)(q21.2;q22;q21.1) and cranio-cerebello-cardiac (3C) syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 648, doi. 10.1002/ajmg.a.33742
- By:
- Publication type:
- Article
A family with partial duplication/deletion 4p due to a balanced t (4; 15) (p16.2; p11.2) translocation.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 656, doi. 10.1002/ajmg.a.33867
- By:
- Publication type:
- Article
Linking chromosome abnormality and copy number variation.
- Published in:
- 2011
- By:
- Publication type:
- Editorial
Noncompaction is already known in DiGeorge anomaly from 22q11.2 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 662, doi. 10.1002/ajmg.a.33706
- By:
- Publication type:
- Article
A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 599, doi. 10.1002/ajmg.a.33717
- By:
- Publication type:
- Article
Ophthalmic findings in the Greek isolate of Cohen syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 534, doi. 10.1002/ajmg.a.33797
- By:
- Publication type:
- Article
Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 577, doi. 10.1002/ajmg.a.33104
- By:
- Publication type:
- Article
Variable expression of neurofibromatosis 1 in monozygotic twins.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 478, doi. 10.1002/ajmg.a.33851
- By:
- Publication type:
- Article
In this issue.
- Published in:
- 2011
- Publication type:
- Other
Genetic screening for Krabbe disease: Learning from the past and looking to the future.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 574, doi. 10.1002/ajmg.a.33815
- By:
- Publication type:
- Article
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - New findings with neuroimaging.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 634, doi. 10.1002/ajmg.a.33837
- By:
- Publication type:
- Article
Fetal genome sequenced from parents' blood samples.
- Published in:
- 2011
- Publication type:
- Other
500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 652, doi. 10.1002/ajmg.a.33855
- By:
- Publication type:
- Article
Saving Grace: On the nature of syndromes and the missed Nobel.
- Published in:
- 2011
- By:
- Publication type:
- Other
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 540, doi. 10.1002/ajmg.a.33847
- By:
- Publication type:
- Article
Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 526, doi. 10.1002/ajmg.a.33705
- By:
- Publication type:
- Article
Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 612, doi. 10.1002/ajmg.a.33808
- By:
- Publication type:
- Article
The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings.
- Published in:
- 2011
- By:
- Publication type:
- Other
Hajdu-Cheney syndrome with severe dural ectasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 595, doi. 10.1002/ajmg.a.33510
- By:
- Publication type:
- Article
Carnitine and coenzyme Q10 levels in individuals with Prader-Willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 569, doi. 10.1002/ajmg.a.33887
- By:
- Publication type:
- Article
Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardium.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 589, doi. 10.1002/ajmg.a.33499
- By:
- Publication type:
- Article
Craniomicromelic syndrome: First report in a male.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 586, doi. 10.1002/ajmg.a.33451
- By:
- Publication type:
- Article
Table of Contents, Volume 155, Number 3, March 2011.
- Published in:
- 2011
- Publication type:
- Other
Genotype-phenotype correlations in the genomic age: Concordance in monozygous twin pairs.
- Published in:
- 2011
- By:
- Publication type:
- Editorial
Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 548, doi. 10.1002/ajmg.a.33861
- By:
- Publication type:
- Article
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-Identification of a novel SLC34A3/NaPi-IIc mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 626, doi. 10.1002/ajmg.a.33832
- By:
- Publication type:
- Article
Response to Drs. Stöllberger and Finsterer 'Noncompaction Is Already Known in DiGeorge Anomaly From 22q11.2 Deletion Syndrome'.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 664, doi. 10.1002/ajmg.a.33704
- By:
- Publication type:
- Article