Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 6
Results: 49
Methadone use in a male with the FMRI premutation and FXTAS.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1354, doi. 10.1002/ajmg.a.37030
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- Publication type:
- Article
FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1418, doi. 10.1002/ajmg.a.37033
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- Article
Successful use of acetazolamide for central apnea in a child with Pitt-Hopkins syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1423, doi. 10.1002/ajmg.a.37034
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- Publication type:
- Article
Early onset ectopia lentis due to a FBN1 mutation with non-penetrance.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1365, doi. 10.1002/ajmg.a.37035
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- Article
46,XY disorders of sex development and congenital diaphragmatic hernia: A case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1360, doi. 10.1002/ajmg.a.37037
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- Article
Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1369, doi. 10.1002/ajmg.a.37038
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- Publication type:
- Article
Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: Comments on the article by Pereza et al. [2012].
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1426, doi. 10.1002/ajmg.a.36974
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- Publication type:
- Article
Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1414, doi. 10.1002/ajmg.a.36975
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- Publication type:
- Article
Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: Implications for the postnatal growth retardation phenotype.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1268, doi. 10.1002/ajmg.a.36976
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- Publication type:
- Article
Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: Combinatorial effect of gene dosage and uniparental disomy.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1289, doi. 10.1002/ajmg.a.36921
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- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 167A, Number 6, June 2015.
- Published in:
- 2015
- Publication type:
- Other
De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: A case report and a brief literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1381, doi. 10.1002/ajmg.a.37050
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- Publication type:
- Article
Patients with isolated oligo/hypodontia caused by RUNX2 duplication.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1386, doi. 10.1002/ajmg.a.37052
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- Publication type:
- Article
Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1285, doi. 10.1002/ajmg.a.37053
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- Publication type:
- Article
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1179, doi. 10.1002/ajmg.a.37056
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- Publication type:
- Article
Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1349, doi. 10.1002/ajmg.a.37002
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- Publication type:
- Article
A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1275, doi. 10.1002/ajmg.a.36995
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- Publication type:
- Article
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1196, doi. 10.1002/ajmg.a.36997
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- Publication type:
- Article
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1342, doi. 10.1002/ajmg.a.36999
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- Publication type:
- Article
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1300, doi. 10.1002/ajmg.a.36873
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- Publication type:
- Article
Overlap of juvenile polyposis syndrome and cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: Implications for treatment and surveillance.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1305, doi. 10.1002/ajmg.a.36876
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- Publication type:
- Article
Comment on The extraordinary career of Professor Dr Simon van Creveld.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1425, doi. 10.1002/ajmg.a.36877
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- Publication type:
- Article
Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1243, doi. 10.1002/ajmg.a.36878
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- Publication type:
- Article
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1309, doi. 10.1002/ajmg.a.36899
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- Publication type:
- Article
Importance of a multidisciplinary approach and monitoring in fetal warfarin syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1294, doi. 10.1002/ajmg.a.36655
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- Publication type:
- Article
Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1330, doi. 10.1002/ajmg.a.36968
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- Publication type:
- Article
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1337, doi. 10.1002/ajmg.a.36969
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- Publication type:
- Article
Macrothrombocytopenia as diagnosis predictor of 22q11 deletion syndrome among patients with congenital heart defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1406, doi. 10.1002/ajmg.a.36531
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- Publication type:
- Article
Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy: Additional information.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1424, doi. 10.1002/ajmg.a.36846
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- Publication type:
- Article
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1400, doi. 10.1002/ajmg.a.36848
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- Publication type:
- Article
4q21 microdeletion in a patient with epilepsy and brain malformations.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1409, doi. 10.1002/ajmg.a.36910
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- Publication type:
- Article
Erratum to 'The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations'.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1428, doi. 10.1002/ajmg.a.36911
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- Article
23andme obtains permission to market bloom syndrome test.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. viii, doi. 10.1002/ajmg.a.37165
- Publication type:
- Article
Genetic pathways explored for role in cystic fibrosis.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. ix, doi. 10.1002/ajmg.a.37166
- Publication type:
- Article
In this issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. x, doi. 10.1002/ajmg.a.37169
- Publication type:
- Article
Frontometaphyseal dysplasia and keloid formation without FLNA mutations.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1215, doi. 10.1002/ajmg.a.37044
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- Publication type:
- Article
MED23-associated intellectual disability in a non-consanguineous family.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1374, doi. 10.1002/ajmg.a.37047
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- Publication type:
- Article
New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1396, doi. 10.1002/ajmg.a.37049
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- Publication type:
- Article
Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1421, doi. 10.1002/ajmg.a.36986
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- Publication type:
- Article
3p14 deletion is a rare contiguous gene syndrome: Report of 2 new patients and an overview of 14 patients.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1223, doi. 10.1002/ajmg.a.36556
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- Publication type:
- Article
Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1231, doi. 10.1002/ajmg.a.36867
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- Publication type:
- Article
Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1323, doi. 10.1002/ajmg.a.36930
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- Publication type:
- Article
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1252, doi. 10.1002/ajmg.a.36932
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- Publication type:
- Article
ELP2 is a novel gene implicated in neurodevelopmental disabilities.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1391, doi. 10.1002/ajmg.a.36935
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- Publication type:
- Article
The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1262, doi. 10.1002/ajmg.a.36936
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- Publication type:
- Article
Summary of the 2nd international symposium on arthrogryposis, St. Petersburg, Russia, September 17-19, 2014.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1193, doi. 10.1002/ajmg.a.36938
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- Publication type:
- Article
A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1315, doi. 10.1002/ajmg.a.36909
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- Publication type:
- Article
Table of Contents, Volume 167A, Number 6, June 2015.
- Published in:
- 2015
- Publication type:
- Other
Genetic causes of intellectual disability in a birth cohort: A population-based study.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1204, doi. 10.1002/ajmg.a.37011
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- Publication type:
- Article