Molecular characterization of a novel X‐linked syndrome involving developmental delay and deafness

No abstract is available for this paper.

• Publication year

  2007

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2007-11-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/ajmg.a.31995PMID 17935254
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Isolation and Characterization

  2016cited by this paper
• X-linked mental retardation: many genes for a complex disorder.

  2006cited by this paper
• X-linked mental retardation

  2005cited by this paper
• Multiple sclerosis: a haplotype association study.

  2005cited by this paper
• Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

  2005cited by this paper
• Advances in X-linked mental retardation

  2005cited by this paper
• Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers.

  2005cited by this paper
• Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease.

  2004influential reference
• Nonsyndromic X-linked mental retardation: where are the missing mutations?

  2003cited by this paper
• A high-resolution recombination map of the human genome

  2002influential reference
• Merlin—rapid analysis of dense genetic maps using sparse gene flow trees

  2002cited by this paper
• Organization of the Rab‐GDI/CHM Superfamily: The Functional Basis for Choroideremia Disease

  2001cited by this paper
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  2000cited by this paper
• Erratum to “MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans”

  2000cited by this paper
• Expression of the murine homologue of FMR2 in mouse brain and during development.

  1998cited by this paper
• The molecular basis of X‐linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation

  1997cited by this paper
• Mouse Dll3: a novel divergent Delta gene which may complement the function of other Delta homologues during early pattern formation in the mouse embryo.

  1997cited by this paper
• Molecular Analysis of the Pou3F4 Gene in Patients with Clinical and Radiographic Evidence of X-Linked Mixed Deafness with Perilymphatic Gusher

  1997influential reference
• A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness

  1996cited by this paper
• Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.

  1996cited by this paper
• Deficient Geranylgeranylation of Ram/Rab27 in Choroideremia (*)

  1995influential reference
• Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

  1995cited by this paper
• Cerebellar contributions to cognition.

  1995cited by this paper
• A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene.

  1995influential reference
• X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.

  1995cited by this paper
• Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

  1995cited by this paper
• FISH analysis in Prader-Willi and Angelman syndrome patients.

  1995cited by this paper
• Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.

  1995cited by this paper
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  1995cited by this paper
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  1994cited by this paper
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  1994cited by this paper
• The brain-specific POU-box gene Brn4 is a sex-linked transcription factor located on the human and mouse X Chromosomes

  1994cited by this paper
• Molecular genetics of inherited eye disorders.

  1994cited by this paper
• X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

  1994cited by this paper
• cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein.

  1993cited by this paper
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  1993cited by this paper
• Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).

  1992cited by this paper
• Isolation of a candidate gene for choroideremia.

  1992cited by this paper
• Isolation and characterization of a candidate gene for Norrie disease

  1992cited by this paper
• Physical fine mapping of genes underlying X-linked deafness and non fra(X)-X-linked mental retardation at Xq21

  1992cited by this paper
• Molecular and cytogenetic analysis of a familial microdeletion of Xq.

  1991cited by this paper
• A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.

  1991cited by this paper
• Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.

  1990cited by this paper
• Cloning of a gene that is rearranged in patients with choroideraemia

  1990cited by this paper
• Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.

  1989cited by this paper
• Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.

  1989cited by this paper
• X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.

  1988cited by this paper
• Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

  1988cited by this paper
• Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus.

  1987cited by this paper
• Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

  1987cited by this paper
• Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion.

  1987cited by this paper
• Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.

  1987cited by this paper
• X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery.

  1985cited by this paper
• Mapping X-linked ophthalmic diseases. Provisional assignment of the locus for choroideremia to Xq13-q24.

  1985cited by this paper
• Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.

  1985cited by this paper
• X-linked deafness in a South African kindred.

  1974cited by this paper
• Theory of X-linkage of major intellectual traits.

  1972cited by this paper
• A marker X chromosome.

  1969cited by this paper

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  2023cites this paper
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  2022cites this paper
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  2021cites this paper
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  2020cites this paper
• [Presentation of a rare case of hereditary hearing loss with X-linked recessive inheritance associated with the POU3F4 gene].

  2020cites this paper
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  2019cites this paper
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  2012cites this paper
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  2010cites this paper
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  2009cites this paper
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  2009cites this paper
• Rab7: roles in membrane trafficking and disease.

  2009cites this paper