Maria Leine Guion‐Almeida

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber et al. · The American Journal of Human Genetics · 2012 · 216 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

Nathaniel H. Robin, George Feldman, Adam Aronson et al. · Nature Genetics · 1995 · 123 citations

Life Sciences, Genetics, Molecular Genetics +8

Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

Christopher T. Gordon, Florence Petit, Peter M. Kroisel et al. · The American Journal of Human Genetics · 2013 · 74 citations · Full text

Life Sciences, Genetics, Otolaryngology +4

Craniofrontonasal syndrome: Study of 41 patients

Dolores Saavedra, Antônio Richieri‐Costa, Maria Leine Guion‐Almeida et al. · American Journal of Medical Genetics · 1996 · 68 citations

Medicine, Craniofacial Biology, Craniofacial Development +12

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

Maria Leine Guion‐Almeida, Roseli Maria Zechi‐Ceide, Siulan Vendramini et al. · Clinical Dysmorphology · 2006 · 66 citations

Dentistry, Craniofacial Biology, Human Development +16