Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 1
Results: 48
Trigeminal nerve agenesis with absence of foramina rotunda in Gómez-López-Hernández syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 238, doi. 10.1002/ajmg.a.36830
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- Article
Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 142, doi. 10.1002/ajmg.a.36831
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- Article
International guidelines for the management and treatment of Morquio A syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 11, doi. 10.1002/ajmg.a.36833
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- Article
Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four-generation family.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 128, doi. 10.1002/ajmg.a.36834
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- Article
Cognitive-behavioral characteristics and developmental trajectories in children with deletion 11qter (Jacobsen syndrome), and their relation to deletion size.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 45, doi. 10.1002/ajmg.a.36837
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- Article
Molecular classes in 209 patients with Prader-Willi or Angelman syndromes: Lessons for genetic counseling.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 261, doi. 10.1002/ajmg.a.36801
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- Article
Phenotypes of AKT3 deletion: A case report and literature review.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 174, doi. 10.1002/ajmg.a.36710
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- Article
A 12q24.31 interstitial deletion in an adult male with MODY3: Neuropsychiatric and neuropsychological characteristics.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 169, doi. 10.1002/ajmg.a.36730
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- Article
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 185, doi. 10.1002/ajmg.a.36428
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- Article
Obesity possible sign of Angelman syndrome in infants, toddlers.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. x, doi. 10.1002/ajmg.a.36920
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- Article
UBE2A deficiency syndrome: A report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 204, doi. 10.1002/ajmg.a.36800
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- Article
Comparative analysis of autistic traits and behavioral disorders in Prader-Willi syndrome and Asperger disorder.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 64, doi. 10.1002/ajmg.a.36787
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- Article
Association between NOGGIN and SPRY2 polymorphisms and nonsyndromic cleft lip with or without cleft palate.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 137, doi. 10.1002/ajmg.a.36802
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- Article
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 211, doi. 10.1002/ajmg.a.36803
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- Article
Overlap between CHARGE and Kabuki syndromes: More than an interesting clinical observation?
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 259, doi. 10.1002/ajmg.a.36804
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Table of Contents, Volume 167A, Number 1, January 2015.
- Published in:
- 2015
- Publication type:
- Other
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.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 159, doi. 10.1002/ajmg.a.36808
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- Article
Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: A case report.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 215, doi. 10.1002/ajmg.a.36809
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- Article
A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 164, doi. 10.1002/ajmg.a.36759
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- Article
American Journal of Medical Genetics Part A: Volume 167A, Number 1, January 2015.
- Published in:
- 2015
- Publication type:
- Other
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 111, doi. 10.1002/ajmg.a.36807
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- Article
4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 231, doi. 10.1002/ajmg.a.36821
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Ring 18 molecular assessment and clinical consequences.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 54, doi. 10.1002/ajmg.a.36822
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Porencephaly in a fetus and HANAC in her father: Variable expression of COL4A1 mutation.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 156, doi. 10.1002/ajmg.a.36823
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Natural history of fetal trisomy 13 after prenatal diagnosis.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 147, doi. 10.1002/ajmg.a.36824
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- Article
Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 151, doi. 10.1002/ajmg.a.36825
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- Article
Is Tel Hashomer camptodactyly a distinct clinical entity?
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 255, doi. 10.1002/ajmg.a.36826
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- Article
A novel mutation in FGFR2.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 123, doi. 10.1002/ajmg.a.36827
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- Article
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 40, doi. 10.1002/ajmg.a.36828
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- Article
Neuroblastoma in a 17-week fetus: A stimulus for investigation of tumors in a series of 2786 stillbirth and late miscarriages.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 246, doi. 10.1002/ajmg.a.36829
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Myocardial fat overgrowth in Proteus syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 103, doi. 10.1002/ajmg.a.36773
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- Article
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 250, doi. 10.1002/ajmg.a.36840
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- Article
Geneticists offer recommendations for sharing unexpected consanguinity findings with parents.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. vii, doi. 10.1002/ajmg.a.36918
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- Article
NIH policy supports broader sharing of genomic data, strengthens informed-consent rules.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. viii, doi. 10.1002/ajmg.a.36919
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- Article
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.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 180, doi. 10.1002/ajmg.a.36790
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Getting the heart into shape by the influence of cell death machinery.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 243, doi. 10.1002/ajmg.a.36791
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- Article
A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 198, doi. 10.1002/ajmg.a.36792
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- Article
Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 1, doi. 10.1002/ajmg.a.36793
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Echogenic.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 254, doi. 10.1002/ajmg.a.36796
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Deletions of 9q21.3 including NTRK2 are associated with severe phenotype.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 264, doi. 10.1002/ajmg.a.36797
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- Article
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 95, doi. 10.1002/ajmg.a.36799
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- Article
Mosaicism for trisomy 21: A review.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 26, doi. 10.1002/ajmg.a.36861
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- Article
Immune mediated disorders in women with a fragile X expansion and FXTAS.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 190, doi. 10.1002/ajmg.a.36748
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Hyperghrelinemia in Prader-Willi syndrome begins in early infancy long before the onset of hyperphagia.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 69, doi. 10.1002/ajmg.a.36810
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Prader-Willi syndrome can be diagnosed prenatally.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 80, doi. 10.1002/ajmg.a.36812
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Transposition of the great arteries in a neonate with Klinefelter syndrome-An incidental finding or a true association.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 268, doi. 10.1002/ajmg.a.36814
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- Article
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.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 221, doi. 10.1002/ajmg.a.36815
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Disease-specific growth charts for Korean infants with Prader-Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 86, doi. 10.1002/ajmg.a.36816
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- Article