Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 5
Results: 51
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1277, doi. 10.1002/ajmg.a.36439
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A case of Rubinstein-Taybi syndrome and congenital neuroblastoma.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1332, doi. 10.1002/ajmg.a.36399
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A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1289, doi. 10.1002/ajmg.a.36442
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Table of Contents, Volume 164A, Number 5, May 2014.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. fm i, doi. 10.1002/ajmg.a.36596
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- Article
Cardiac manifestations of Pallister-Killian syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1130, doi. 10.1002/ajmg.a.36413
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Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1094, doi. 10.1002/ajmg.a.36453
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MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1175, doi. 10.1002/ajmg.a.36431
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Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1162, doi. 10.1002/ajmg.a.36424
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An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1192, doi. 10.1002/ajmg.a.36435
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Pneumothorax from subpleural blebs-A new association of sotos syndrome?
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1222, doi. 10.1002/ajmg.a.36406
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Autism and anxiety in males with fragile X syndrome: An exploratory analysis of neurobehavioral profiles from a parent survey.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1198, doi. 10.1002/ajmg.a.36468
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Erratum to 'Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome', Am J Med Genet Part A 161A:1638-1646.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1346, doi. 10.1002/ajmg.a.36493
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Laboratory policies on reporting secondary findings in clinical whole exome sequencing: Initial uptake of the ACMG's recommendations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1328, doi. 10.1002/ajmg.a.36398
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Unexpected exome sequencing result: De novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1334, doi. 10.1002/ajmg.a.36430
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Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1118, doi. 10.1002/ajmg.a.36401
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American Journal of Medical Genetics Part A: Volume 164A, Number 5, May 2014.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. C1, doi. 10.1002/ajmg.a.36595
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- Article
Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1254, doi. 10.1002/ajmg.a.36412
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Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1310, doi. 10.1002/ajmg.a.36452
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Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1151, doi. 10.1002/ajmg.a.36423
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Exome analysis of connective tissue dysplasia: Death and rebirth of clinical genetics?
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1209, doi. 10.1002/ajmg.a.36463
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In this issue.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. x, doi. 10.1002/ajmg.a.36577
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Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1180, doi. 10.1002/ajmg.a.36434
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Hypoglycemia in Prader-Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1127, doi. 10.1002/ajmg.a.36405
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An intragenic deletion of the gene MNAT1 in a family with pectus deformities.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1293, doi. 10.1002/ajmg.a.36445
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The intellectual disabilities evaluation and advice system (IDEAS): Outcome of the first 55 cases.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1102, doi. 10.1002/ajmg.a.36456
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Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1143, doi. 10.1002/ajmg.a.36427
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Analysis of two candidate genes for Basan syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1188, doi. 10.1002/ajmg.a.36438
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Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1136, doi. 10.1002/ajmg.a.36409
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De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1341, doi. 10.1002/ajmg.a.36449
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Arterial and venous thrombosis of the cerebral vasculature in GAPO syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1284, doi. 10.1002/ajmg.a.36440
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Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: Report of three affected patients.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1245, doi. 10.1002/ajmg.a.36411
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A tortuous proximal urethra in urorectal septum malformation sequence?
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1298, doi. 10.1002/ajmg.a.36451
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Gender plays role in predicting neuronal dysfunction for patients with neurofibromatosis 1.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. viii, doi. 10.1002/ajmg.a.36576
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- Article
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1272, doi. 10.1002/ajmg.a.36433
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Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1218, doi. 10.1002/ajmg.a.36404
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Yunis-varon syndrome: Further delineation of cardiovascular and endocrine outcome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1213, doi. 10.1002/ajmg.a.35741
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Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1268, doi. 10.1002/ajmg.a.36415
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Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: Novel evidence for a new condition?
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1085, doi. 10.1002/ajmg.a.36426
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Long-term observation of a patient with dominant omodysplasia.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1234, doi. 10.1002/ajmg.a.36408
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Challenges of classifying double outlet right ventricle: Importance for genotype-phenotype analyses.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1340, doi. 10.1002/ajmg.a.36448
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The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1204, doi. 10.1002/ajmg.a.36444
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Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1322, doi. 10.1002/ajmg.a.36008
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Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1239, doi. 10.1002/ajmg.a.36410
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Patient advocates as partners in genetic research.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. vii, doi. 10.1002/ajmg.a.36575
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An amnion implantation hypothesis: A conceptual framework for mechanism-based studies of amnion adhesion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1092, doi. 10.1002/ajmg.a.36403
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The Still Point of the Turning World.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1338, doi. 10.1002/ajmg.a.36443
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Klippel-Trenaunay syndrome in a boy with concomitant ipsilateral overgrowth and undergrowth.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1262, doi. 10.1002/ajmg.a.36414
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Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1318, doi. 10.1002/ajmg.a.36454
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Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1170, doi. 10.1002/ajmg.a.36425
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Monochorionic twins discordant for mosaic trisomy 14.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1227, doi. 10.1002/ajmg.a.36407
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