Orofaciodigital Syndromes

Known as: Syndromes, Orofaciodigital, orofacial digital syndrome, Dysplasia Linguofacialis 
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X… (More)
National Institutes of Health

Papers overview

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2015
2015
The Meckel syndrome (MKS) complex functions at the transition zone, located between the basal body and axoneme, to regulate the… (More)
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Highly Cited
2011
Highly Cited
2011
Ciliopathies are caused by mutations in genes encoding proteins required for cilia organization or function. We show through… (More)
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Highly Cited
2010
Highly Cited
2010
Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders that feature dysplasia or degeneration occurring… (More)
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2010
2010
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic… (More)
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2009
2009
Centrioles are intriguing cylindrical organelles composed of triplet microtubules. Proteomic data suggest that a large number of… (More)
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Review
2006
Review
2006
UNLABELLED The occurrence of X inactivation in mammals has the consequence that all women are functional mosaics. In X-linked… (More)
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Highly Cited
2005
Highly Cited
2005
BACKGROUND The centriole is one of the most enigmatic organelles in the cell. Centrioles are cylindrical, microtubule-based… (More)
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1998
1998
Eukaryotic protein kinases are part of a large and expanding family of proteins. Through our transcriptional mapping effort in… (More)
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1997
1997
Several X-linked disorders affect females disproportionately or exclusively. These including focal dermal hypoplasia1,2, oral… (More)
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1987
1987
We report a female case of orofaciodigital syndrome type I (OFD I) associated with polycystic kidneys and agenesis of the corpus… (More)
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