Orofaciodigital Syndrome I

Known as: OFD1, Papillon Leage and Psaume Syndrome, Gorlin Psaume Syndrome 
 

Topic mentions per year

Topic mentions per year

1997-2017
051019972017

Papers overview

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Highly Cited
2013
Highly Cited
2013
The primary cilium is a microtubule-based organelle that functions in sensory and signalling pathways. Defects in ciliogenesis… (More)
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2012
2012
X-linked retinitis pigmentosa (XLRP) is genetically heterogeneous with two causative genes identified, RPGR and RP2. We… (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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Highly Cited
2010
Highly Cited
2010
Centrosomes and their component centrioles represent the principal microtubule organizing centers of animal cells. Here, we show… (More)
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Highly Cited
2009
Highly Cited
2009
We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The presence of asymptomatic obligate carrier… (More)
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2007
2007
Oral-facial-digital (OFD) type I syndrome is an X-linked dominant disease (MIM311200) characterized by malformations of oral… (More)
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Highly Cited
2006
Highly Cited
2006
We report on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and… (More)
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Highly Cited
2004
Highly Cited
2004
OFD1 is the gene responsible for the oral-facial-digital syndrome type 1, a cause of inherited cystic renal disease. The protein… (More)
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Highly Cited
2001
Highly Cited
2001
Oral-facial-digital type 1 syndrome (OFD1 [MIM 311200]) is transmitted as an X-linked dominant condition with lethality in males… (More)
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