American Journal of Medical Genetics Part A: Vol 164, No 3

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American Journal of Medical Genetics Part A

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American Journal of Medical Genetics Part A: Volume 164, Issue 3

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American Journal of Medical Genetics Part A: Volume 164A, Number 3, March 2014

Table of Contents

Table of Contents, Volume 164A, Number 3, March 2014

the AJMG SEQUENCE

Genetic testing using array comparative genomic hybridization may benefit newborns with congenital heart disease: Study shows aCGH more effective at detecting potential genetic causes of CHD than other methods

FDA-approved Next-Generation sequencing system could expand clinical genomic testing: Experts predict MiSeqDx system will make genetic testing more affordable for smaller labs

In this issue

Conference Report

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies

Research Article

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome

Invited Comment

Towards a re-thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type

Research Articles

Lack of consensus on tests and criteria for generalized joint hypermobility, Ehlers–Danlos syndrome: Hypermobile type and joint hypermobility syndrome

Microarray and FISH-based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome

Twenty-two survivors over the age of 1 year with full trisomy 18: Presenting and current medical conditions†

Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations

Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4

Interstitial deletion 14q22.3-q23.2: Genotype–phenotype correlation

Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands

Haploinsufficiency of interferon regulatory factor 6 alters brain morphology in the mouse

Longitudinal assessment of cognition and T2-hyperintensities in NF1: An 18-year study

Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies

Exacerbation of BMI after cessation of growth hormone therapy in patients with Prader–Willi syndrome

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review

9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome?

Stillbirth: The heart of the matter

Amyoplasia revisited

Clinical Reports

Long-term follow-up study for a patient with Floating–Harbor syndrome due to a hotspot SRCAP mutation

Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: Characterization and evaluation of the aberrations

Low-level mesodermal somatic mutation mosaicism: Late-onset craniofacial and cervical spinal hyperostoses

Mosaic microdeletion of 17p11.2–p12 and duplication of 17q22–q24 in a girl with Smith–Magenis phenotype and peripheral neuropathy

Complex chromosomal rearrangements causing Langer–Giedion syndrome atypical phenotype: Genotype–phenotype correlation and literature review

Thricho-rhino-phalangeal syndrome and severe osteoporosis: A rare association or a feature? An effective therapeutic approach with biphosphonates

Severe clinical presentation in monozygotic twins with 10p15.3 microdeletion syndrome

Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity

A patient with Simpson–Golabi–Behmel syndrome, biliary cirrhosis and successful liver transplantation

Focal dermal hypoplasia without focal dermal hypoplasia

Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy

Expanding the clinical phenotype of patients with a ZDHHC9 mutation

Clinical characteristics in patients with interstitial deletions of chromosome region 12q21–q22 and identification of a critical region associated with keratosis pilaris

Recurrent microdeletion 2q21.1: Report on a new patient with neurological disorders

A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region

Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster

Bilateral striatal necrosis in two subjects with Aicardi–Goutières syndrome due to mutations in ADAR1 (AGS6)

Prenatal diagnosis of Carpenter syndrome: Looking beyond craniosynostosis and polysyndactyly

Research Letter

Interstitial deletion of 2q24.2: Further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction

Clinical Report

TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

Research Letters

Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract

Fraser syndrome due to mutations in GRIP1—Clinical phenotype in two families and expansion of the mutation spectrum

Disorder of sex development in an infant with molecularly confirmed 46,XY, +der(10)t(10;21)(q21.1;q21.3), -21

Research Review

Growth curves in Down syndrome: Implications for clinical practice

Research Letters

Report of a patient with Temple–Baraitser syndrome

Book Review

Hereditary Hearing Loss and Its Syndromes, 3rd Edition. Helga V. Toriello and Shelley D. Smith, eds. ISBN 978-0-19-973196-1.

Correspondence

SNAI2 mutation causes human piebaldism

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Twenty-two survivors over the age of 1 year with full trisomy 18: Presenting and current medical conditions ^†