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IssueVolume 167, Issue 1C1-fm v, vii-x, 1-270January 2015
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American Journal of Medical Genetics Part A: Volume 167A, Number 1, January 2015
- Pages: C1
- First Published: 22 December 2014
Table of Contents
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Table of Contents, Volume 167A, Number 1, January 2015
- Pages: fm i-fm v
- First Published: 22 December 2014
the AJMG SEQUENCE
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Geneticists offer recommendations for sharing unexpected consanguinity findings with parents: Guidance on approaching counseling sessions, protecting child's best interests
- Pages: vii-viii
- First Published: 22 December 2014
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NIH policy supports broader sharing of genomic data, strengthens informed-consent rules: Research participants must give consent for secondary sharing, even if data are de-identified
- Pages: viii-ix
- First Published: 22 December 2014
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Obesity possible sign of Angelman syndrome in infants, toddlers
- Pages: x
- First Published: 22 December 2014
Conference Report
no
Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues
- Pages: 1-10
- First Published: 12 November 2014
Research Reviews
Open Access
oa
International guidelines for the management and treatment of Morquio A syndrome
- Pages: 11-25
- First Published: 24 October 2014
Research Articles
no
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome
- Pages: 40-44
- First Published: 24 October 2014
no
Cognitive-behavioral characteristics and developmental trajectories in children with deletion 11qter (Jacobsen syndrome), and their relation to deletion size
- Pages: 45-53
- First Published: 25 November 2014
no
Ring 18 molecular assessment and clinical consequences
- Pages: 54-63
- First Published: 22 October 2014
no
Comparative analysis of autistic traits and behavioral disorders in Prader–Willi syndrome and Asperger disorder
- Pages: 64-68
- First Published: 11 November 2014
no
Hyperghrelinemia in Prader-Willi syndrome begins in early infancy long before the onset of hyperphagia
- Pages: 69-79
- First Published: 29 October 2014
no
Disease-specific growth charts for Korean infants with Prader–Willi syndrome
- Pages: 86-94
- First Published: 22 October 2014
no
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel–Feil and Treacher Collins syndromes
- Pages: 95-102
- First Published: 27 October 2014
no
Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature
- Pages: 111-122
- First Published: 25 November 2014
no
Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four-generation family
- Pages: 128-136
- First Published: 25 November 2014
no
Association between NOGGIN and SPRY2 polymorphisms and nonsyndromic cleft lip with or without cleft palate
- Pages: 137-141
- First Published: 22 October 2014
no
Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects
- Pages: 142-146
- First Published: 17 November 2014
Clinical Reports
no
Natural history of fetal trisomy 13 after prenatal diagnosis
- Pages: 147-150
- First Published: 22 October 2014
no
Twenty-one years to the right diagnosis – clinical overlap of Simpson–Golabi–Behmel and Beckwith–Wiedemann syndrome
- Pages: 151-155
- First Published: 22 October 2014
no
Porencephaly in a fetus and HANAC in her father: Variable expression of COL4A1 mutation
- Pages: 156-158
- First Published: 25 November 2014
no
An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: Further definition of the phenotypic heterogeneity of LBR-bone dysplasias
- Pages: 159-163
- First Published: 27 October 2014
no
A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion
- Pages: 164-168
- First Published: 25 November 2014
no
A 12q24.31 interstitial deletion in an adult male with MODY3: Neuropsychiatric and neuropsychological characteristics
- Pages: 169-173
- First Published: 25 November 2014
no
Phenotypes of AKT3 deletion: A case report and literature review
- Pages: 174-179
- First Published: 25 November 2014
no
Prader–Willi syndrome and Tay–Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq
- Pages: 180-184
- First Published: 06 October 2014
no
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature
- Pages: 185-189
- First Published: 17 November 2014
no
Immune mediated disorders in women with a fragile X expansion and FXTAS
- Pages: 190-197
- First Published: 14 November 2014
no
A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings
- Pages: 198-203
- First Published: 24 September 2014
no
UBE2A deficiency syndrome: A report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene
- Pages: 204-210
- First Published: 06 October 2014
no
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis
- Pages: 211-214
- First Published: 22 October 2014
no
Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: A case report
- Pages: 215-220
- First Published: 30 October 2014
no
Complex de novo chromosomal rearrangement at 15q11–q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature
- Pages: 221-230
- First Published: 22 October 2014
no
4q12–4q21.21 deletion genotype–phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency
- Pages: 231-237
- First Published: 29 October 2014
no
Trigeminal nerve agenesis with absence of foramina rotunda in Gómez–López–Hernández syndrome
- Pages: 238-242
- First Published: 22 October 2014
Research Letter
no
Getting the heart into shape by the influence of cell death machinery
- Pages: 243-245
- First Published: 22 October 2014
Clinical Reports
no
Neuroblastoma in a 17-week fetus: A stimulus for investigation of tumors in a series of 2786 stillbirth and late miscarriages
- Pages: 246-249
- First Published: 22 October 2014
no
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome
- Pages: 250-253
- First Published: 25 November 2014
Frameshift
Research Letters
no
Is Tel Hashomer camptodactyly a distinct clinical entity?
- Pages: 255-258
- First Published: 27 October 2014
no
Overlap between CHARGE and Kabuki syndromes: More than an interesting clinical observation?
- Pages: 259-260
- First Published: 22 October 2014
no
Molecular classes in 209 patients with Prader–Willi or Angelman syndromes: Lessons for genetic counseling
- Pages: 261-263
- First Published: 06 October 2014
Correspondence
no
Deletions of 9q21.3 including NTRK2 are associated with severe phenotype
- Pages: 264-267
- First Published: 27 October 2014
no
Transposition of the great arteries in a neonate with Klinefelter syndrome—An incidental finding or a true association
- Pages: 268-270
- First Published: 22 October 2014
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