Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

Hydrocephalus with Hirschsprung disease: Severe end of X-linked hydrocephalus spectrum

(2012) Toshiki Takenouchi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The MASA syndrome: A new heritable mental retardation syndrome

(2010) Josette W. Bianchine et al.   CLINICAL GENETICS

Aqueductal Stenosis in X-Linked Hydrocephalus: a Secondary Phenomenon?

(2010) P. Landrieu et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

An updated and upgradedL1CAMmutation database

(2009) Yvonne J. Vos et al.   HUMAN MUTATION

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

(2009) Y. J. Vos et al.   JOURNAL OF MEDICAL GENETICS

Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

(2008) Laurent Pasquier et al.   ACTA NEUROPATHOLOGICA

L1 and NCAM adhesion molecules as signaling coreceptors in neuronal migration and process outgrowth

(2008) Ralf S Schmid et al.   CURRENT OPINION IN NEUROBIOLOGY