Prenatal diagnosis of a terminal chromosome 1 (q42-q44) deletion: original case report and review of the literature.

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype? J Med Genet (2001) 1.38

A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. Am J Med Genet A (2007) 1.16

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype. Am J Med Genet A (2005) 1.12

Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A (2004) 1.00

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. Eur J Hum Genet (2011) 0.99

Two new cases of pure 1q terminal deletion presenting with brain malformations. Am J Med Genet A (2008) 0.94

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q43) in first-trimester screening: is there a characteristic antenatal 1q deletion phenotype? A case report and review of the literature. Fetal Diagn Ther (2010) 0.93

Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium. Eur J Med Genet (2005) 0.88

Prenatal diagnosis of terminal deletion 1 (q42) Prenat Diagn (1992) 0.81

Chromosome 1 deletion associated with increased nuchal fold thickness in the second trimester. Prenat Diagn (1989) 0.81

Deletion of the distal long arm of chromosome 1: a definable syndrome. Am J Med Genet (1985) 0.80