scholarly article | Q13442814 |
P50 | author | Alan D. Irvine | Q39066910 |
P2093 | author name string | Ning Li | |
Jun Yu | |||
Xue Zhang | |||
Xin Li | |||
W H Irwin McLean | |||
Chaoxia Lu | |||
Dai Zhang | |||
Dan Lv | |||
Dandan Shang | |||
Fen Ma | |||
Guang He | |||
Jiajie Hao | |||
Lihua Cao | |||
Lin He | |||
Miao Sun | |||
Ming-Rong Wang | |||
Qi Dong | |||
Qing Liu | |||
Rui Hua | |||
Wilson H Y Lo | |||
Wu Dong | |||
Yang Luo | |||
Yaran Wen | |||
Yiming Xu | |||
Yongyong Shi | |||
Zugen Chen | |||
P2860 | cites work | Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes | Q21145278 |
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1 | Q24613504 | ||
The cardiofaciocutaneous syndrome | Q24656142 | ||
Sox9 is essential for outer root sheath differentiation and the formation of the hair stem cell compartment | Q28513589 | ||
A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan | Q33395842 | ||
An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis | Q33678060 | ||
Hair follicle stem cells are specified and function in early skin morphogenesis | Q33881467 | ||
Constitutive activation of MKK6 in chondrocytes of transgenic mice inhibits proliferation and delays endochondral bone formation | Q34249713 | ||
Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24–q27.1 | Q34304223 | ||
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Julia Pastrana, the nondescript: an example of congenital, generalized hypertrichosis terminalis with gingival hyperplasia | Q34728184 | ||
ABC A-subfamily transporters: structure, function and disease. | Q36422412 | ||
Genomic rearrangements and sporadic disease | Q36863512 | ||
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice | Q36948295 | ||
Clinical and molecular aspects of RAS related disorders | Q37190295 | ||
Emerging themes and new challenges in defining the role of structural variation in human disease | Q37287518 | ||
Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter | Q41454164 | ||
A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'. | Q41938723 | ||
Differential involvement of p38 mitogen-activated protein kinase kinases MKK3 and MKK6 in T-cell apoptosis | Q42093335 | ||
Atavisms and atavistic mutations | Q52207985 | ||
Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis. | Q53552307 | ||
Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. | Q54536880 | ||
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. | Q55044931 | ||
Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci | Q57258188 | ||
Costello syndrome: clinical diagnosis in the first year of life | Q57552088 | ||
Involvement of MKK6 in TCRalphabeta(int)CD69lo: a target population for apoptotic cell death in thymocytes | Q73568765 | ||
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits | Q77572380 | ||
Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity | Q78720973 | ||
Candidate loci for Zimmermann-Laband syndrome at 3p14.3. | Q79427967 | ||
P433 | issue | 6 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | hypertrichosis | Q595010 |
congenital disorder | Q727096 | ||
P304 | page(s) | 807-13 | |
P577 | publication date | 2009-06-01 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia | |
P478 | volume | 84 |
Q35899350 | 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations |
Q52660843 | A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures. |
Q43737132 | A novel X-linked disorder with developmental delay and autistic features |
Q37084804 | Clinical assessment and genomic landscape of a consanguineous family with three Kallmann syndrome descendants |
Q35852184 | Congenital Generalized Hypertrichosis, Gingival Hyperplasia, a Coarse Facies with Constriction Bands: A Rare Association |
Q38620691 | Congenital hypertrichosis universalis in Mexican female twins |
Q36966119 | Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome |
Q38271654 | Current concepts on gingival fibromatosis-related syndromes |
Q52939486 | De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features. |
Q21132024 | Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders |
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Q21144873 | Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth |
Q52608817 | Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype. |
Q35106426 | Observations on Copy Number Variations in a Kidney-yang Deficiency Syndrome Family |
Q35796731 | Porcine SOX9 Gene Expression Is Influenced by an 18 bp Indel in the 5'-Untranslated Region |
Q34650754 | Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. |
Q64039968 | Rare Diseases with Periodontal Manifestations |
Q33614753 | Refinement of the GINGF3 locus for hereditary gingival fibromatosis |
Q53229089 | SOX9 regulates ERBB signalling in pancreatic cancer development. |
Q38058727 | Systems genetics in "-omics" era: current and future development |
Q28505316 | Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis |
Q37968535 | Unveiling the roots of monogenic genodermatoses: genotrichoses as a paradigm |
Q57906425 | Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations inABCC9 |
Q35039915 | X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3 |
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