Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 4
Results: 54
Pretibial linear vertical creases or indentations (shin dimples) associated with arthrogryposis.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 737, doi. 10.1002/ajmg.a.35788
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- Publication type:
- Article
GenTAC registry report: Gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 779, doi. 10.1002/ajmg.a.35836
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- Publication type:
- Article
Book review: The Autisms (4/E). Coleman Mary, Gillberg Christopher, Oxford University Press: Oxford, UK, 2012.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 905, doi. 10.1002/ajmg.a.35755
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- Article
Book review: Autism Spectrum Disorders. Amara David G, Dawson Geraldine, Geschwind Daniel H (Eds.). Oxford University Press: Oxford, UK, 2011.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 907, doi. 10.1002/ajmg.a.35759
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- Article
In this issue.
- Published in:
- 2013
- Publication type:
- Other
Progressive disorders and associated complications.
- Published in:
- 2013
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- Publication type:
- Editorial
A patient with de novo 0.45 Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 865, doi. 10.1002/ajmg.a.35783
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- Article
Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 913, doi. 10.1002/ajmg.a.35828
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- Article
Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 845, doi. 10.1002/ajmg.a.35754
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- Article
Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 803, doi. 10.1002/ajmg.a.35879
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- Publication type:
- Article
Table of Contents, Volume 161A, Number 4, April 2013.
- Published in:
- 2013
- Publication type:
- Other
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 835, doi. 10.1002/ajmg.a.35739
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- Publication type:
- Article
Genetic defects behind fragile X-related disorders more common.
- Published in:
- 2013
- Publication type:
- Other
FOP in China and Japan: An overview from domestic literatures.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 892, doi. 10.1002/ajmg.a.35771
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- Publication type:
- Article
An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 787, doi. 10.1002/ajmg.a.35841
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- Publication type:
- Article
Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 856, doi. 10.1002/ajmg.a.35776
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- Publication type:
- Article
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 671, doi. 10.1002/ajmg.a.35747
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- Publication type:
- Article
A highly specific coding system for structural chromosomal alterations.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 732, doi. 10.1002/ajmg.a.35787
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- Publication type:
- Article
Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 817, doi. 10.1002/ajmg.a.35655
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- Publication type:
- Article
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 822, doi. 10.1002/ajmg.a.35699
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- Publication type:
- Article
The Salernitan school of medicine: Women, men, and children. A syndromological review of the oldest medical school in the western world.
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- 2013
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- Publication type:
- Other
Clinical and cytogenetic characterization of a boy with a de novo pure partial trisomy 16q24.1q24.3 and complex chromosome rearrangement.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 897, doi. 10.1002/ajmg.a.35782
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- Publication type:
- Article
A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 918, doi. 10.1002/ajmg.a.35793
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- Publication type:
- Article
Postnatal brain and skull growth in an Apert syndrome mouse model.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 745, doi. 10.1002/ajmg.a.35805
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- Publication type:
- Article
Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 880, doi. 10.1002/ajmg.a.35838
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- Publication type:
- Article
The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 792, doi. 10.1002/ajmg.a.35849
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- Publication type:
- Article
Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: A case control study of genetic factors.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 702, doi. 10.1002/ajmg.a.35775
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- Publication type:
- Article
Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 659, doi. 10.1002/ajmg.a.35840
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- Publication type:
- Article
A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 850, doi. 10.1002/ajmg.a.35768
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- Publication type:
- Article
High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 889, doi. 10.1002/ajmg.a.35764
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- Publication type:
- Article
Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 711, doi. 10.1002/ajmg.a.35779
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- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 161A, Number 4, April 2013.
- Published in:
- 2013
- Publication type:
- Other
Changes in mortality and causes of death in the Swedish Down syndrome population.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 642, doi. 10.1002/ajmg.a.35706
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- Publication type:
- Article
Barriers for integrating personalized medicine into clinical practice: A qualitative analysis.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 758, doi. 10.1002/ajmg.a.35811
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- Publication type:
- Article
Neurofibromatosis type 2 in the elderly population: Clinical and molecular features.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 667, doi. 10.1002/ajmg.a.35851
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- Publication type:
- Article
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 771, doi. 10.1002/ajmg.a.35833
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- Publication type:
- Article
6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 901, doi. 10.1002/ajmg.a.35804
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- Publication type:
- Article
Antisense may make sense of 1q44 deletions, seizures, and HNRNPU.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 910, doi. 10.1002/ajmg.a.35770
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- Publication type:
- Article
De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 894, doi. 10.1002/ajmg.a.35781
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- Publication type:
- Article
Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 875, doi. 10.1002/ajmg.a.35826
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- Publication type:
- Article
Epilepsy in children with trisomy 18.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 696, doi. 10.1002/ajmg.a.35763
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- Publication type:
- Article
GAPO syndrome: Four new patients with congenital glaucoma and myelinated retinal nerve fiber layer.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 829, doi. 10.1002/ajmg.a.35734
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- Publication type:
- Article
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 884, doi. 10.1002/ajmg.a.35848
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- Publication type:
- Article
New therapies for treating Down syndrome require quality of life measurement.
- Published in:
- 2013
- By:
- Publication type:
- Editorial
The MEF2C gene-microdeletion 5q14.3 dilemma and three axioms for molecular syndromology.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 916, doi. 10.1002/ajmg.a.35785
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- Publication type:
- Article
Aspect of faulty brain development in 22q11 deletion syndrome shown.
- Published in:
- 2013
- Publication type:
- Other
Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 679, doi. 10.1002/ajmg.a.35756
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- Publication type:
- Article
Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 860, doi. 10.1002/ajmg.a.35778
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- Publication type:
- Article
Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 687, doi. 10.1002/ajmg.a.35810
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- Publication type:
- Article
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 764, doi. 10.1002/ajmg.a.35832
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- Publication type:
- Article