4.5 Article

Smith-Magenis syndrome

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1)

Santhosh Girirajan et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Article Genetics & Heredity

Craniofacial and dental phenotype of Smith-Magenis syndrome

Natalia Tomona et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)

Article Genetics & Heredity

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome

Weimin Bi et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)

Review Clinical Neurology

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2)

Andrea L. Gropman et al.

PEDIATRIC NEUROLOGY (2006)

Article Genetics & Heredity

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions

S Girirajan et al.

JOURNAL OF MEDICAL GENETICS (2005)

Article Genetics & Heredity

Polydactyly in a boy with Smith-Magenis syndrome

L MarianneJensen et al.

CLINICAL DYSMORPHOLOGY (2005)

Article Genetics & Heredity

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene

CN Vlangos et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)

Article Biotechnology & Applied Microbiology

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia

A Toulouse et al.

GENOMICS (2003)

Article Genetics & Heredity

Mutations in RAI1 associated with Smith-Magenis syndrome

RE Slager et al.

NATURE GENETICS (2003)

Article Genetics & Heredity

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2

CJ Shaw et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2002)

Article Pediatrics

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

H De Leersnyder et al.

JOURNAL OF PEDIATRICS (2001)

Article Otorhinolaryngology

Otorhinolaringologic manifestation of Smith-Magenis syndrome

M Di Cicco et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2001)

Article Genetics & Heredity

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

L Potocki et al.

JOURNAL OF MEDICAL GENETICS (2000)