M Mathieu

Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

H.‐J. Lüdecke, Jörg Schaper, Peter Meinecke et al. · The American Journal of Human Genetics · 2001 · 234 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly

Sylvie Odent, Tania Attié‐Bitach, Martine Blayau et al. · Human Molecular Genetics · 1999 · 159 citations

Life Sciences, Genetics, Molecular Genetics +16

Molecular analysis of pericentrin gene (<i>PCNT</i>) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

Marjorlaine Willems, D. Genevieve, Guntram Borck et al. · Journal of Medical Genetics · 2009 · 112 citations

Life Sciences, Genetics, Molecular Genetics +14

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

Céline Bonnet, Joris Andrieux, Mylène Béri‐Dexheimer et al. · Journal of Medical Genetics · 2010 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

Rikke S. Møller, Lars Riff Jensen, Saskia M. Maas et al. · Human Genetics · 2013 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17