scholarly article | Q13442814 |
P356 | DOI | 10.1038/JHG.2010.121 |
P953 | full work available at URL | https://www.nature.com/articles/jhg2010121.pdf |
http://www.nature.com/articles/jhg2010121 | ||
http://www.nature.com/articles/jhg2010121.pdf | ||
P698 | PubMed publication ID | 20882036 |
P5875 | ResearchGate publication ID | 46821170 |
P2093 | author name string | Dau-Ming Niu | |
Chia-Hsiang Chen | |||
Shih-Jen Chen | |||
Hsiao-Mei Liao | |||
Jye-Siung Fang | |||
Yan-Jang Chen | |||
P2860 | cites work | NHS-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 families | Q41575180 | ||
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 family | Q80198433 | ||
New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands | Q83878611 | ||
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly | Q24299324 | ||
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 reproduction | Q28757720 | ||
REPS2/POB1 is downregulated during human prostate cancer progression and inhibits growth factor signalling in prostate cancer cells | Q30938786 | ||
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 family | Q34380339 | ||
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions | Q34522000 | ||
Rho GTPases, dendritic structure, and mental retardation | Q36122096 | ||
X-linked cataract and Nance-Horan syndrome are allelic disorders | Q37239905 | ||
P433 | issue | 1 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | chromosomal deletion syndrome | Q16918398 |
P304 | page(s) | 8-11 | |
P577 | publication date | 2010-09-30 | |
P1433 | published in | Journal of Human Genetics | Q6295302 |
P1476 | title | Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome | |
P478 | volume | 56 |
Q54141361 | A novel Xp22.13 microdeletion in Nance-Horan syndrome. |
Q49837914 | A novel small deletion in the NHS gene associated with Nance-Horan syndrome |
Q51827374 | Commentary on ‘Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance–Horan syndrome’ |
Q90950127 | Genetic architecture of laterality defects revealed by whole exome sequencing |
Q42379191 | Nance-Horan Syndrome: A Rare Case Report |
Q50044313 | Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature |
Q53030229 | Nance-Horan syndrome-The oral perspective on a rare disease. |
Q89519608 | Oral Manifestations of Nance-Horan Syndrome: A Report of a Rare Case |
Q55351079 | Retinoic acid-induced 2 (RAI2) is a novel tumor suppressor, and promoter region methylation of RAI2 is a poor prognostic marker in colorectal cancer. |
Q36675879 | Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing |
Q60908844 | Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome |
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