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American Journal of Medical Genetics Part A: Volume 158A, Number 12, December 2012.
- Published in:
- 2012
- Publication type:
- Other
Association of interactions among the IRF6 gene, the 8q24 region, and maternal folic acid intake with non-syndromic cleft lip/palate in Mexican Mestizos.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3207, doi. 10.1002/ajmg.a.35641
- By:
- Publication type:
- Article
Functional independence of Taiwanese children with VACTERL association.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3101, doi. 10.1002/ajmg.a.33643
- By:
- Publication type:
- Article
Breast cancer and other neoplasms in women with neurofibromatosis type 1: A retrospective review of cases in the Detroit metropolitan area.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3061, doi. 10.1002/ajmg.a.35560
- By:
- Publication type:
- Article
Congenital high airway obstruction sequence (CHAOS): A new case and a review of phenotypic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3126, doi. 10.1002/ajmg.a.35643
- By:
- Publication type:
- Article
Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3033, doi. 10.1002/ajmg.a.35500
- By:
- Publication type:
- Article
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3148, doi. 10.1002/ajmg.a.35665
- By:
- Publication type:
- Article
Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: New syndrome?
- Published in:
- 2012
- By:
- Publication type:
- Other
Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3174, doi. 10.1002/ajmg.a.35588
- By:
- Publication type:
- Article
Pallister-Killian syndrome: Historical perspective and foreword.
- Published in:
- 2012
- By:
- Publication type:
- Editorial
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3168, doi. 10.1002/ajmg.a.35456
- By:
- Publication type:
- Article
In this issue.
- Published in:
- 2012
- Publication type:
- Other
An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3182, doi. 10.1002/ajmg.a.35631
- By:
- Publication type:
- Article
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3119, doi. 10.1002/ajmg.a.35642
- By:
- Publication type:
- Article
Increased risk of breast cancer in women with NF1.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3056, doi. 10.1002/ajmg.a.35550
- By:
- Publication type:
- Article
A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3137, doi. 10.1002/ajmg.a.35664
- By:
- Publication type:
- Article
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3196, doi. 10.1002/ajmg.a.35635
- By:
- Publication type:
- Article
Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3106, doi. 10.1002/ajmg.a.35639
- By:
- Publication type:
- Article
Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: Evidence from 20 studies.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3080, doi. 10.1002/ajmg.a.35634
- By:
- Publication type:
- Article
Novel clinical manifestations in Pallister-Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3002, doi. 10.1002/ajmg.a.35722
- By:
- Publication type:
- Article
Table of Contents, Volume 158A, Number 12, December 2012.
- Published in:
- 2012
- Publication type:
- Other
Book review: Craniofacial Embryogenetics and Development. 2nd edition. By Sperber GH, Sperber SM, Guttman GD, editors. People's Medical Publishing House, Shelton CT, 2010. pp. 250. (ISBN 10: 1-60795-032-4).
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3214, doi. 10.1002/ajmg.a.35630
- By:
- Publication type:
- Article
Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3018, doi. 10.1002/ajmg.a.35670
- By:
- Publication type:
- Article
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3046, doi. 10.1002/ajmg.a.35726
- By:
- Publication type:
- Article
Newborn screening for Duchenne muscular dystrophy gains support.
- Published in:
- 2012
- Publication type:
- Other
Clinical geneticists' views of VACTERL/VATER association.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3087, doi. 10.1002/ajmg.a.35638
- By:
- Publication type:
- Article
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: Confirmation of a rare clinical spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3211, doi. 10.1002/ajmg.a.35656
- By:
- Publication type:
- Article
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3190, doi. 10.1002/ajmg.a.35633
- By:
- Publication type:
- Article
Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3112, doi. 10.1002/ajmg.a.35640
- By:
- Publication type:
- Article
A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3201, doi. 10.1002/ajmg.a.35644
- By:
- Publication type:
- Article
Are we ready for targeted early breast cancer detection strategies in women with NF1 aged 30-49 years?
- Published in:
- 2012
- By:
- Publication type:
- Editorial
Genetic modifier to chromatin may contribute to 22q11 deletion/VCF/DiGeorge syndrome variability.
- Published in:
- 2012
- Publication type:
- Other
Incidental findings in genetic research and clinical diagnostic tests: A systematic review.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3159, doi. 10.1002/ajmg.a.35615
- By:
- Publication type:
- Article
Seizure characteristics in Pallister-Killian syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3026, doi. 10.1002/ajmg.a.35567
- By:
- Publication type:
- Article
Perspectives on asymmetry: The erickson lecture.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 2981, doi. 10.1002/ajmg.a.34348
- By:
- Publication type:
- Article
Speech and hearing in adults with 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3071, doi. 10.1002/ajmg.a.35589
- By:
- Publication type:
- Article