American Journal of Medical Genetics Part A: Vol 164, No 8

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American Journal of Medical Genetics Part A: Volume 164, Issue 8

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American Journal of Medical Genetics Part A: Volume 164A, Number 8, August 2014

Table of Contents

Table of Contents, Volume 164A, Number 8, August 2014

the AJMG SEQUENCE

NIH calls for stronger statistical evidence to support pathogenicity: Geneticists raise concerns about process of identifying genes as possible culprits in disease

Study suggests genetic link between Down syndrome and leukemia: Connection found between lack of PRC2 gene and B-cell acute lymphoblastic leukemia

In this issue

Conference Report

The society of craniofacial genetics and developmental biology 36th annual meeting

Research Articles

Self-concept in children with Down syndrome

The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations

Correction(s) for this article

Erratum to “The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations”

Disability training in the genetic counseling curricula: Bridging the gap between genetic counselors and the disability community

Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: Further delineation of an emerging syndrome

Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome

Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors

Abnormal brain magnetic resonance imaging in two patients with Smith–Magenis syndrome

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects

Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy syndrome)—10-year follow-up of patients who previously participated in an MPS VI survey study†

New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity

Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures

Overlapping trisomies for human chromosome 21 orthologs produce similar effects on skull and brain morphology of Dp(16)1Yey and Ts65Dn mice

Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: Phenotypic expansion and review of the literature

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins

Clinical Reports

Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: Patient report and review of 20qter duplications

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl

Upper airway surgery of obstructive sleep apnea in pycnodysostosis: Case report and literature review

The perinatal presentation of cardiofaciocutaneous syndrome

Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome

Distinct karyotypes in two offspring of a man with jumping translocation karyotype 45,XY,der(16)t(16;22)(q24;q11.2), −22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), −22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), −22 [10]

Mild nasal clefting may be predictive for ALX4 heterozygotes

A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia

Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1–q24.2 contiguous gene deletion

Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome

Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role of LBX

Advanced bone age in a girl with Wiedemann–Steiner syndrome and an exonic deletion in KMT2A (MLL)

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

De novo microdeletion of BCL11A is associated with severe speech sound disorder

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

Refinement of the deletion in 8q22.2–q22.3: The minimum deletion size at 8q22.3 related to intellectual disability and epilepsy

Research Letters

Confirmation of 6q21–6q22.1 deletion in Acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome

Hepatomegaly and hyperammonemia in a girl with Silver–Russell syndrome caused by maternal uniparental isodisomy of chromosome 7

A patient with Cantú syndrome associated with fatal bronchopulmonary dysplasia and pulmonary hypertension

Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension

Enamel–Renal–Gingival syndrome, hypodontia, and a novel FAM20A mutation

Brain magnetic resonance in the routine management of Rubinstein-Taybi syndrome (RTS) can prevent life-threatening events and neurological deficits

Correspondence

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot

Correspondence regarding SNX8 haploinsufficiency and its potential for cardiac anomalies including tetralogy of Fallot

Darwin's statements on reversion or atavism

Response to Li and Liu's “Darwin's statements on reversion or atavism”

De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys–Dietz syndrome features

Response to “De novo mutation of the TGFB3 latency-associated peptide domain in a patient with overgrowth and Loeys–Dietz syndrome features”

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Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy syndrome)—10-year follow-up of patients who previously participated in an MPS VI survey study ^†