De novo deletion of 1q24.3‐q31.2 in a patient with severe growth retardation

CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome

José Roberto Marcelino, John D. Carpten, Wafaa M. Suwairi et al. · Nature Genetics · 1999 · 322 citations

Cardiomyopathy, Camptodactyly-arthropathy-coxa Vara-pericarditis Syndrome, Medicine +7

Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

Kalotina Machinis, Jacques Pantel, Irène Netchine et al. · The American Journal of Human Genetics · 2001 · 273 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +8

Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

Maria Descartes, Julie Zenger Hain, Michael J. Conklin et al. · American Journal of Medical Genetics Part A · 2008 · 37 citations

Cytogenetics, Genetics, Pathology +20

A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21–23→1q25

Kutay Taysi, Gurbax S. Sekhon, Richard E. Hillman et al. · American Journal of Medical Genetics · 1982 · 35 citations

Cytogenetics, Unrelated Children, Genetics +24

Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III

Takako Takano, Yasuko Yamanouchi, Yosuke Mori et al. · American Journal of Medical Genetics · 1997 · 26 citations

Cytogenetics, Genetics, Molecular Biology +18