Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR

Legius syndrome in fourteen families

(2010) Ellen Denayer et al.   HUMAN MUTATION

SPRED 1 Mutations in a Neurofibromatosis Clinic

(2010) Talia M. Muram-Zborovski et al.   JOURNAL OF CHILD NEUROLOGY

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

(2009) Lisenka E.L.M. Vissers et al.   HUMAN MOLECULAR GENETICS

Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome

(2009) Ludwine Messiaen   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

(2009) E Pasmant et al.   JOURNAL OF MEDICAL GENETICS

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

(2009) G Spurlock et al.   JOURNAL OF MEDICAL GENETICS

Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q

(2008) Gabriela Calounova et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

(2008) Diane Van Opstal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay

(2008) Chih-Ping Chen et al.   European Journal of Medical Genetics