Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 9
Results: 49
A case of de Barsy syndrome with a severe eye phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2364, doi. 10.1002/ajmg.a.35507
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- Publication type:
- Article
Long-term follow-up of newborn screening often falls short.
- Published in:
- 2012
- Publication type:
- Other
Infants' MTHFR polymorphisms and nonsyndromic orofacial clefts susceptibility: A meta-analysis based on 17 case-control studies.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2162, doi. 10.1002/ajmg.a.35503
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- Publication type:
- Article
Severe lateral tibial bowing with short stature in two siblings-A provisionally novel syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2309, doi. 10.1002/ajmg.a.35514
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- Publication type:
- Article
Report of two patients and further characterization of interstitial 9p13 deletion-A rare but recurrent microdeletion syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2328, doi. 10.1002/ajmg.a.35536
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- Publication type:
- Article
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2204, doi. 10.1002/ajmg.a.35532
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- Publication type:
- Article
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2124, doi. 10.1002/ajmg.a.35495
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- Publication type:
- Article
Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2139, doi. 10.1002/ajmg.a.35502
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- Publication type:
- Article
Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2100, doi. 10.1002/ajmg.a.35448
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- Publication type:
- Article
Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2297, doi. 10.1002/ajmg.a.35499
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- Publication type:
- Article
17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2317, doi. 10.1002/ajmg.a.35520
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- Publication type:
- Article
Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2214, doi. 10.1002/ajmg.a.35531
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- Publication type:
- Article
New technologies pave way for fetal personalized medicine.
- Published in:
- 2012
- Publication type:
- Other
Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: Report of a novel ADAR1 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2258, doi. 10.1002/ajmg.a.35488
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- Publication type:
- Article
Expression analysis of a 17p terminal deletion, including YWHAE, but not PAFAH1B1, associated with normal brain structure on MRI in a young girl.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2347, doi. 10.1002/ajmg.a.35542
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- Publication type:
- Article
2010 and 2011 American Journal of Medical Genetics Reviewer Listing.
- Published in:
- 2012
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- Publication type:
- Other
Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2239, doi. 10.1002/ajmg.a.35450
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- Publication type:
- Article
De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2272, doi. 10.1002/ajmg.a.35490
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- Publication type:
- Article
The Learning Disabilities Network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2225, doi. 10.1002/ajmg.a.35535
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- Publication type:
- Article
Table of Contents, Volume 158A, Number 9, September 2012.
- Published in:
- 2012
- Publication type:
- Other
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2176, doi. 10.1002/ajmg.a.35506
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- Publication type:
- Article
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2336, doi. 10.1002/ajmg.a.35530
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- Publication type:
- Article
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2277, doi. 10.1002/ajmg.a.35494
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- Publication type:
- Article
Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2152, doi. 10.1002/ajmg.a.35574
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- Publication type:
- Article
Identification of the mechanism underlying a human chimera by SNP array analysis.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2119, doi. 10.1002/ajmg.a.35476
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- Publication type:
- Article
Pseudoaminopterin syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2233, doi. 10.1002/ajmg.a.35212
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- Publication type:
- Article
Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2188, doi. 10.1002/ajmg.a.35528
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- Publication type:
- Article
Pleural malignancy in a 22-year-old female with a chromosome 22q13 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2362, doi. 10.1002/ajmg.a.35501
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- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 158A, Number 9, September 2012.
- Published in:
- 2012
- Publication type:
- Other
Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2131, doi. 10.1002/ajmg.a.35498
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- Publication type:
- Article
Partial duplication of 13q31.3-q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2302, doi. 10.1002/ajmg.a.35505
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- Publication type:
- Article
BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1).
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2322, doi. 10.1002/ajmg.a.35516
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- Publication type:
- Article
Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2283, doi. 10.1002/ajmg.a.35493
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- Publication type:
- Article
Thymidylate synthase polymorphisms and risk of conotruncal heart defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2194, doi. 10.1002/ajmg.a.35310
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- Publication type:
- Article
Phenotype in novel Xp duplication.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2342, doi. 10.1002/ajmg.a.35538
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- Publication type:
- Article
In this issue.
- Published in:
- 2012
- Publication type:
- Other
Chronic tibial nonunion in a Rothmund-Thomson syndrome patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2250, doi. 10.1002/ajmg.a.35475
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- Publication type:
- Article
A novel sclerosing skeletal dysplasia with mixed sclerosing bone dysplasia, characteristic syndromic features, and clinical and radiographic evidence of male-male transmission.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2292, doi. 10.1002/ajmg.a.35497
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- Publication type:
- Article
Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2254, doi. 10.1002/ajmg.a.35479
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- Publication type:
- Article
Assessment of bone mineral status in children with Marfan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2221, doi. 10.1002/ajmg.a.35540
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- Publication type:
- Article
Atypical amyoplasia congenita in an infant with Leigh syndrome: A mitochondrial cause of severe contractures?
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2353, doi. 10.1002/ajmg.a.35533
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- Publication type:
- Article
Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2091, doi. 10.1002/ajmg.a.35446
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- Publication type:
- Article
IMPAD1 mutations in two Catel-Manzke like patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2183, doi. 10.1002/ajmg.a.35504
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- Publication type:
- Article
IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2170, doi. 10.1002/ajmg.a.35526
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- Publication type:
- Article
Trisomy 18: Frequency, types, and prognosis of congenital heart defects in a Brazilian cohort.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2358, doi. 10.1002/ajmg.a.35492
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- Publication type:
- Article
Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2290, doi. 10.1002/ajmg.a.35496
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- Publication type:
- Article
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2106, doi. 10.1002/ajmg.a.35449
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- Publication type:
- Article
Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted regions.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2266, doi. 10.1002/ajmg.a.35489
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- Publication type:
- Article
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2245, doi. 10.1002/ajmg.a.35474
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- Publication type:
- Article