Neuronal migration disorders in microcephalic
osteodysplastic primordial dwarfism type I/III.
Acta neuropathologica
, 2010 Sep 21:
Prevalence of ALDH7A1 mutations in 18 North American
pyridoxine-dependent seizure (PDS) patients.
Epilepsia
, 2009 May: 1167-75
CC2D2A is mutated in Joubert syndrome and interacts with
the ciliopathy-associated basal body protein CEP290.
American journal of human
genetics
, 2008 Nov: 559-71
Mutations in the cilia gene ARL13B lead to the classical
form of Joubert syndrome.
American journal of human
genetics
, 2008 Aug: 170-9
Unexpected structural complexity of supernumerary marker
chromosomes characterized by microarray comparative genomic
hybridization.
Molecular Cytogenetics
, 2008 Apr 21: 7
Mutations in the gene encoding the basal body protein
RPGRIP1L, a nephrocystin-4 interactor, cause Joubert
syndrome.
Nature genetics
, 2007 Jul: 882-8
Joubert syndrome (and related disorders) (OMIM
213300).
European journal of human genetics :
EJHG
, 2007 May: 511-21
A case of true hermaphroditism reveals an unusual
mechanism of twinning.
Human genetics
, 2007 Apr: 179-85
Double aneuploidy (48,XXY,+21): molecular analysis
demonstrates a maternal origin.
European journal of medical
genetics
, 2006 Jul-Aug: 346-8
Senataxin, the yeast Sen1p orthologue: characterization of
a unique protein in which recessive mutations cause ataxia and
dominant mutations cause motor neuron disease.
Neurobiology of disease
, 2006 Jul: 97-108
Aortic root dilatation is a rare complication of Noonan
syndrome.
Pediatric cardiology
, 2006 Jul-Aug: 478-80
The centrosomal protein nephrocystin-6 is mutated in
Joubert syndrome and activates transcription factor ATF4.
Nature genetics
, 2006 Jun: 674-81
Ring chromosome 15: characterization by array CGH.
Human genetics
, 2006 Jan: 611-7
Prenatal diagnosis in pregnancies at risk for Joubert
syndrome by ultrasound and MRI.
Prenatal diagnosis
, 2005 Jun: 442-7
Spondylometaphyseal dysplasia with cone-rod
dystrophy.
American journal of medical genetics. Part
A
, 2004 Sep 1: 265-76
The NPHP1 gene deletion associated with juvenile
nephronophthisis is present in a subset of individuals with
Joubert syndrome.
American journal of human
genetics
, 2004 Jul: 82-91
Genotype-phenotype correlation in congenital heart
disease.
Current opinion in cardiology
, 2004 May: 221-7
Joubert syndrome: a haplotype segregation strategy and
exclusion of the zinc finger protein of cerebellum 1 (ZIC1)
gene.
American journal of medical genetics. Part
A
, 2004 Mar 1: 117-24; discussion 117
Molar tooth sign of the midbrain-hindbrain junction:
occurrence in multiple distinct syndromes.
American journal of medical genetics. Part
A
, 2004 Mar 1: 125-34; discussion 117
Cerebral and cerebellar motor activation abnormalities in
a subject with Joubert syndrome: functional magnetic resonance
imaging (MRI) study.
Journal of child neurology
, 2004 Mar: 214-8
The 10q24-linked split hand/split foot syndrome (SHFM3):
narrowing of the critical region and confirmation of the clinical
phenotype.
American journal of medical genetics. Part
A
, 2004 Jan 15: 136-41
An Xp; Yq translocation causing a novel contiguous gene
syndrome in brothers with generalized epilepsy, ichthyosis, and
attention deficits.
Epilepsia
, 2003 Dec: 1529-35
Somatic and germline mosaicism for a R248C missense
mutation in FGFR3, resulting in a skeletal dysplasia distinct
from thanatophoric dysplasia.
American journal of medical genetics. Part
A
, 2003 Jul 15: 157-68
A report of dizygous monochorionic twins.
The New England journal of
medicine
, 2003 Jul 10: 154-8