Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype

An infant with deletion of the distal long arm of chromosome 15 (q26.1→qter) and loss of insulin‐like growth factor 1 receptor gene

Ellen W. Roback, Amin J. Barakat, V.G. Dev et al. · American Journal of Medical Genetics · 1991 · 177 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Cell Proliferation Activities on Skin Fibroblasts from a Short Child with Absence of One Copy of the Type 1 Insulin-Like Growth Factor Receptor (IGF1R) Gene and a Tall Child with Three Copies of the IGF1R Gene

Yumiko Okubo, Ken Siddle, Helen V. Firth et al. · The Journal of Clinical Endocrinology & Metabolism · 2003 · 122 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome

Toshiya Tamura, T Tohma, Tohru Ohta et al. · Clinical Dysmorphology · 1993 · 71 citations

Life Sciences, Genetics, Molecular Genetics +15

Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15.

Thomas Siebler, W Lopaczyński, Cheryl Terry et al. · The Journal of Clinical Endocrinology & Metabolism · 1995 · 66 citations

Life Sciences, Genetics, Molecular Genetics +14

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients

Zeynep Tümer, Theresa Larriba Harboe, Elisabeth Blennow et al. · American Journal of Medical Genetics Part A · 2004 · 62 citations

Life Sciences, Genetics, Molecular Genetics +14