4.2 Article

Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Fetal Pads as a Clue to the Diagnosis of Pitt-Hopkins Syndrome

Daphne Lehalle et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Article Genetics & Heredity

The Pitt-Hopkins Syndrome: Report of 16 New Patients and Clinical Diagnostic Criteria

Giuseppe Marangi et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Article Genetics & Heredity

Mosaic microdeletion 18q21 as a cause of mental retardation

Dimitri J. Stavropoulos et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2010)

Letter Pediatrics

Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation

Grazia Taddeucci et al.

ITALIAN JOURNAL OF PEDIATRICS (2010)

Review Genetics & Heredity

Disorders of Left-Right Asymmetry: Heterotaxy and Situs Inversus

Mardi J. Sutherland et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2009)

Article Genetics & Heredity

Mutational, Functional, and Expression Studies of the TCF4 Gene in Pitt-Hopkins Syndrome

Loic de Pontual et al.

HUMAN MUTATION (2009)

Article Genetics & Heredity

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

Vera M. Kalscheuer et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

Article Genetics & Heredity

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

Joris Andrieux et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2008)

Article Genetics & Heredity

TCF4 Deletions in Pitt-Hopkins Syndrome

Irina Giurgea et al.

HUMAN MUTATION (2008)

Article Genetics & Heredity

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

Christiane Zweier et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Acoustics

Prenatal diagnosis of cardiosplenic syndromes: a 10-year experience

C Berg et al.

ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2003)