Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 11
Results: 61
Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: A novel phenotype.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2941, doi. 10.1002/ajmg.a.35618
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- Publication type:
- Article
Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz-Jeghers phenotype.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2959, doi. 10.1002/ajmg.a.35629
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- Article
Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2857, doi. 10.1002/ajmg.a.35481
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- Publication type:
- Article
Gene therapy awaits approval in Europe.
- Published in:
- 2012
- Publication type:
- Other
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2820, doi. 10.1002/ajmg.a.35620
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- Article
Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2963, doi. 10.1002/ajmg.a.35595
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- Publication type:
- Article
Growth charts for 22q11 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2672, doi. 10.1002/ajmg.a.35485
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- Publication type:
- Article
MGAT2-CDG (CDG-IIa) and dysmorphism.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2976, doi. 10.1002/ajmg.a.35375
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- Publication type:
- Article
A rare association of fibromuscular dysplasia, renal agenesis, renal arteriovenous fistulae, and vertebral anomalies: Expanding the V in VACTERL association.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2863, doi. 10.1002/ajmg.a.33523
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- Publication type:
- Article
Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2700, doi. 10.1002/ajmg.a.35519
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- Publication type:
- Article
Table of Contents, Volume 158A, Number 11, November 2012.
- Published in:
- 2012
- Publication type:
- Other
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2870, doi. 10.1002/ajmg.a.35221
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- Publication type:
- Article
Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2969, doi. 10.1002/ajmg.a.35602
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- Publication type:
- Article
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2935, doi. 10.1002/ajmg.a.35613
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- Publication type:
- Article
Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2835, doi. 10.1002/ajmg.a.35624
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- Publication type:
- Article
The signature of craniofacial deformation in fibrodysplasia ossificans progressiva.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2977, doi. 10.1002/ajmg.a.35617
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- Publication type:
- Article
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2788, doi. 10.1002/ajmg.a.35583
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- Publication type:
- Article
Sleep-disordered breathing in Beckwith-Wiedemann syndrome: Three patients.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2956, doi. 10.1002/ajmg.a.35628
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- Publication type:
- Article
Growth in Chilean infants with chromosome 22q11 microdeletion syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2682, doi. 10.1002/ajmg.a.35525
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- Publication type:
- Article
Growth curves of Egyptian patients with Turner syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2687, doi. 10.1002/ajmg.a.35518
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- Publication type:
- Article
Central nervous system malformations and deformations in FGFR2-related craniosynostosis.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2797, doi. 10.1002/ajmg.a.35598
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- Publication type:
- Article
Anthropometric measurements in Egyptian patients with osteogenesis imperfecta.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2714, doi. 10.1002/ajmg.a.35529
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- Publication type:
- Article
Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2665, doi. 10.1002/ajmg.a.35426
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- Publication type:
- Article
Disease-specific databases: Why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011.
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- 2012
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- Publication type:
- Other
Special section. Syndrome-specific growth charts.
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- 2012
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- Publication type:
- Editorial
American Journal of Medical Genetics Part A: Volume 158A, Number 11, November 2012.
- Published in:
- 2012
- Publication type:
- Other
Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2807, doi. 10.1002/ajmg.a.35601
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- Article
Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2733, doi. 10.1002/ajmg.a.35681
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- Publication type:
- Article
Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2815, doi. 10.1002/ajmg.a.35612
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- Publication type:
- Article
A new report of Cornelia de Lange syndrome associated with split hand and feet.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2953, doi. 10.1002/ajmg.a.35623
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- Publication type:
- Article
The complex craniofacial signature of fibrodysplasia ossificans progressiva: Whose handwriting is it?
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2979, doi. 10.1002/ajmg.a.35616
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- Publication type:
- Article
Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability.
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- 2012
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- Publication type:
- Other
Grange syndrome: An identifiable cause of stroke in young adults.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2894, doi. 10.1002/ajmg.a.35593
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- Publication type:
- Article
The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2726, doi. 10.1002/ajmg.a.35609
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- Publication type:
- Article
An inherited LMNA gene mutation in atypical Progeria syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2881, doi. 10.1002/ajmg.a.35557
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- Publication type:
- Article
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: A new syndrome?
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- 2012
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- Publication type:
- Other
2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2767, doi. 10.1002/ajmg.a.35362
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- Publication type:
- Article
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2719, doi. 10.1002/ajmg.a.35447
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- Publication type:
- Article
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2775, doi. 10.1002/ajmg.a.35395
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- Publication type:
- Article
Growth charts of Turkish children with Down syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2656, doi. 10.1002/ajmg.a.35710
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- Publication type:
- Article
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2931, doi. 10.1002/ajmg.a.35611
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- Publication type:
- Article
In this issue.
- Published in:
- 2012
- Publication type:
- Other
Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene-phenotype correlations.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2829, doi. 10.1002/ajmg.a.35622
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- Publication type:
- Article
Marked variability in the radiographic features of cartilage-hair hypoplasia: Case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2911, doi. 10.1002/ajmg.a.35604
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- Publication type:
- Article
Development and implementation of electronic growth charts for infants with Prader-Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2743, doi. 10.1002/ajmg.a.35581
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- Publication type:
- Article
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2781, doi. 10.1002/ajmg.a.35512
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- Publication type:
- Article
Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2843, doi. 10.1002/ajmg.a.35626
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- Publication type:
- Article
Atypical findings in three patients with Pai syndrome and literature review.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2899, doi. 10.1002/ajmg.a.35592
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- Publication type:
- Article
WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2917, doi. 10.1002/ajmg.a.35608
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- Publication type:
- Article
Normative growth charts for individuals with Costello syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2692, doi. 10.1002/ajmg.a.35534
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- Publication type:
- Article