Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome

scientific article published on September 30, 2010

Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/JHG.2010.121
P953full work available at URLhttps://www.nature.com/articles/jhg2010121.pdf
http://www.nature.com/articles/jhg2010121
http://www.nature.com/articles/jhg2010121.pdf
P698PubMed publication ID20882036
P5875ResearchGate publication ID46821170

P2093author name stringDau-Ming Niu
Chia-Hsiang Chen
Shih-Jen Chen
Hsiao-Mei Liao
Jye-Siung Fang
Yan-Jang Chen
P2860cites workNHS-A isoform of the NHS gene is a novel interactor of ZO-1.Q39850572
Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).Q40482556
Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four familiesQ41575180
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.Q51907594
Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended familyQ80198433
New mutations in the NHS gene in Nance-Horan Syndrome families from the NetherlandsQ83878611
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyQ24299324
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.Q24532206
Identification of the gene for Nance-Horan syndrome (NHS)Q24676331
Adaptive evolution of SCML1 in primates, a gene involved in male reproductionQ28757720
REPS2/POB1 is downregulated during human prostate cancer progression and inhibits growth factor signalling in prostate cancer cellsQ30938786
EGF signalling in prostate cancer cell lines is inhibited by a high expression level of the endocytosis protein REPS2.Q34354134
Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian familyQ34380339
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctionsQ34522000
Rho GTPases, dendritic structure, and mental retardationQ36122096
X-linked cataract and Nance-Horan syndrome are allelic disordersQ37239905
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectchromosomal deletion syndromeQ16918398
P304page(s)8-11
P577publication date2010-09-30
P1433published inJournal of Human GeneticsQ6295302
P1476titleIdentification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome
P478volume56

Reverse relations

cites work (P2860)
Q54141361A novel Xp22.13 microdeletion in Nance-Horan syndrome.
Q49837914A novel small deletion in the NHS gene associated with Nance-Horan syndrome
Q51827374Commentary on ‘Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance–Horan syndrome’
Q90950127Genetic architecture of laterality defects revealed by whole exome sequencing
Q42379191Nance-Horan Syndrome: A Rare Case Report
Q50044313Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature
Q53030229Nance-Horan syndrome-The oral perspective on a rare disease.
Q89519608Oral Manifestations of Nance-Horan Syndrome: A Report of a Rare Case
Q55351079Retinoic acid-induced 2 (RAI2) is a novel tumor suppressor, and promoter region methylation of RAI2 is a poor prognostic marker in colorectal cancer.
Q36675879Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing
Q60908844Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome

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