Found: 41
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Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 574, doi. 10.1002/ajmg.a.35217
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- Publication type:
- Article
In this issue.
- Published in:
- 2012
- Publication type:
- Other
Informing on prenatal screening for Down syndrome prior to conception. An empirical and ethical perspective.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 485, doi. 10.1002/ajmg.a.35213
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- Publication type:
- Article
Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 674, doi. 10.1002/ajmg.a.34258
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- Publication type:
- Article
R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 664, doi. 10.1002/ajmg.a.35206
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- Publication type:
- Article
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 553, doi. 10.1002/ajmg.a.35202
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- Publication type:
- Article
Ophthalmic features of CHARGE syndrome with CHD7 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 514, doi. 10.1002/ajmg.a.34400
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- Publication type:
- Article
A small terminal deletion 11q in a boy without Jacobsen syndrome: Narrowing the critical region for the 11q Jacobsen syndrome phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 680, doi. 10.1002/ajmg.a.34433
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- Publication type:
- Article
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: Case report of a novel SALL1 deletion and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 533, doi. 10.1002/ajmg.a.34426
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- Publication type:
- Article
An inherited disorder with splenomegaly, cytopenias, and vision loss.
- Published in:
- 2012
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- Publication type:
- Other
Characterization of a novel KRAS mutation identified in Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 524, doi. 10.1002/ajmg.a.34419
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- Publication type:
- Article
Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 659, doi. 10.1002/ajmg.a.35201
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- Publication type:
- Article
Array CGH increasingly used in prenatal and postnatal testing.
- Published in:
- 2012
- Publication type:
- Other
Teratogenicity of mycophenolate confirmed in a prospective study of the European Network of Teratology Information Services.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 588, doi. 10.1002/ajmg.a.35223
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- Publication type:
- Article
The neurologic findings in Taybi-Linder syndrome (MOPD I/III): Case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 606, doi. 10.1002/ajmg.a.33958
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- Publication type:
- Article
Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: A skin biopsy should remain the diagnostic gold standard.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 669, doi. 10.1002/ajmg.a.35209
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- Publication type:
- Article
Call for change in prenatal counseling for Down syndrome.
- Published in:
- 2012
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- Publication type:
- Editorial
Consanguinity and occurrence of cleft lip/palate: A hospital-based registry study in Riyadh.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 541, doi. 10.1002/ajmg.a.34432
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- Publication type:
- Article
Chromosome 4q deletion syndrome: Narrowing the cardiovascular critical region to 4q32.2-q34.3.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 635, doi. 10.1002/ajmg.a.34425
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- Publication type:
- Article
Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 547, doi. 10.1002/ajmg.a.34436
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- Publication type:
- Article
Case about medical patents makes its way to U.S. Supreme Court.
- Published in:
- 2012
- Publication type:
- Other
Further characterization of Shwachman-Diamond syndrome: Psychological functioning and quality of life in adult and young patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 567, doi. 10.1002/ajmg.a.35211
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- Publication type:
- Article
Table of Contents, Volume 158A, Number 3, March 2012.
- Published in:
- 2012
- Publication type:
- Other
Complex relationship between meiotic recombination frequency and autosomal synaptonemal complex length per cell in normal human males.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 581, doi. 10.1002/ajmg.a.35222
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- Publication type:
- Article
A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 689, doi. 10.1002/ajmg.a.35215
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- Publication type:
- Article
Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 626, doi. 10.1002/ajmg.a.34420
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- Publication type:
- Article
Use and non-use of genetic counseling after diagnosis of a birth defect.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 559, doi. 10.1002/ajmg.a.35210
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- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 158A, Number 3, March 2012.
- Published in:
- 2012
- Publication type:
- Other
Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 641, doi. 10.1002/ajmg.a.34431
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- Publication type:
- Article
Family history of cleft lip and palate in subjects diagnosed with leukemia.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 678, doi. 10.1002/ajmg.a.34430
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- Publication type:
- Article
Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 685, doi. 10.1002/ajmg.a.34434
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- Publication type:
- Article
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: Report of two patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 630, doi. 10.1002/ajmg.a.34424
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- Publication type:
- Article
The importance of advanced parental age in the origin of neurofibromatosis type 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 519, doi. 10.1002/ajmg.a.34413
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- Publication type:
- Article
Chromosome 22q11.2 duplication is rare in a population-based cohort of Danish children with cardiovascular malformations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 509, doi. 10.1002/ajmg.a.34441
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- Publication type:
- Article
Adams-Oliver syndrome and portal hypertension: Fortuitous association or common mechanism?
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 648, doi. 10.1002/ajmg.a.34435
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- Publication type:
- Article
WDR62 missense mutation in a consanguineous family with primary microcephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 622, doi. 10.1002/ajmg.a.34417
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- Publication type:
- Article
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 652, doi. 10.1002/ajmg.a.34439
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- Publication type:
- Article
First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 617, doi. 10.1002/ajmg.a.34416
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- Publication type:
- Article
The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations. A population-based study.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 498, doi. 10.1002/ajmg.a.34250
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- Publication type:
- Article
Non-immune hydrops fetalis: A short review of etiology and pathophysiology.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 597, doi. 10.1002/ajmg.a.34438
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- Publication type:
- Article
Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 611, doi. 10.1002/ajmg.a.34221
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- Publication type:
- Article