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Title
Mosaic 18q21.2 deletions including theTCF4gene: A clinical report
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 158A, Issue 12, Pages 3174-3181
Publisher
Wiley
Online
2012-11-20
DOI
10.1002/ajmg.a.35588
References
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Related references
Note: Only part of the references are listed.- Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome
- (2011) Daphne Lehalle et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria
- (2011) Giuseppe Marangi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype
- (2011) K Takano et al. CLINICAL GENETICS
- The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions
- (2011) Minire Hasi et al. HUMAN GENETICS
- Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
- (2011) Sandra Whalen et al. HUMAN MUTATION
- Evaluating chromosomal mosaicism by array comparative genomic hybridization in hematological malignancies: the proposal of a formula
- (2011) Roberto Valli et al. Cancer Genetics
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mosaic microdeletion 18q21 as a cause of mental retardation
- (2010) Dimitri J. Stavropoulos et al. European Journal of Medical Genetics
- Disorders of left-right asymmetry: Heterotaxy and situs inversus
- (2009) Mardi J. Sutherland et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
- (2009) Jill A Rosenfeld et al. GENETICS IN MEDICINE
- Mutational, functional, and expression studies of theTCF4gene in Pitt-Hopkins syndrome
- (2009) Lo��c de Pontual et al. HUMAN MUTATION
- Disruption of theTCF4gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome
- (2008) Vera M. Kalscheuer et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array
- (2008) Joris Andrieux et al. European Journal of Medical Genetics
- TCF4Deletions in Pitt-Hopkins Syndrome
- (2008) Irina Giurgea et al. HUMAN MUTATION
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