130 related articles for article (PubMed ID: 32662247)
1. Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.
Xu J; Wu J; Teng X; Cai L; Yuan H; Chen X; Hu M; Wang X; Jiang N; Chen H
Am J Med Genet A; 2020 Sep; 182(9):2117-2123. PubMed ID: 32662247
[TBL] [Abstract][Full Text] [Related]
2. A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Zlotina A; Melnik O; Fomicheva Y; Skitchenko R; Sergushichev A; Shagimardanova E; Gusev O; Gazizova G; Loevets T; Vershinina T; Kozyrev I; Gordeev M; Vasichkina E; Pervunina T; Kostareva A
BMC Med Genomics; 2020 Nov; 13(1):175. PubMed ID: 33218365
[TBL] [Abstract][Full Text] [Related]
3. Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease.
Liu Z; Yin N; Gong L; Tan Z; Yin B; Yang Y; Luo C
Mol Med Rep; 2017 Feb; 15(2):793-797. PubMed ID: 28035386
[TBL] [Abstract][Full Text] [Related]
4. Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.
Dai L; Guo H; Meng H; Zhang K; Hu H; Yao H; Bai Y
Eur J Pediatr; 2013 Nov; 172(11):1467-73. PubMed ID: 23793141
[TBL] [Abstract][Full Text] [Related]
5. Mutation analysis of a Chinese pedigree with triphalangeal thumb-polysyndactyly syndrome.
Xing XS; Zhu HW; Chen C; Wang SS; Luo Y; Zhang X
Genet Mol Res; 2014 Jan; 13(1):246-54. PubMed ID: 24535850
[TBL] [Abstract][Full Text] [Related]
6. A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.
Potuijt JWP; Baas M; Sukenik-Halevy R; Douben H; Nguyen P; Venter DJ; Gallagher R; Swagemakers SM; Hovius SER; van Nieuwenhoven CA; Galjaard RH; van der Spek PJ; Ahituv N; de Klein A
Genet Med; 2018 Nov; 20(11):1405-1413. PubMed ID: 29543231
[TBL] [Abstract][Full Text] [Related]
7. Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.
Sun M; Ma F; Zeng X; Liu Q; Zhao XL; Wu FX; Wu GP; Zhang ZF; Gu B; Zhao YF; Tian SH; Lin B; Kong XY; Zhang XL; Yang W; Lo WH; Zhang X
J Med Genet; 2008 Sep; 45(9):589-95. PubMed ID: 18417549
[TBL] [Abstract][Full Text] [Related]
8. An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family.
Wang B; Diao Y; Liu Q; An H; Ma R; Jiang G; Lai N; Li Z; Zhu X; Zhao L; Guo Q; Zhang Z; Sun R; Li X
Sci Rep; 2016 Dec; 6():38500. PubMed ID: 27922091
[TBL] [Abstract][Full Text] [Related]
9. The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.
Potuijt JWP; Sowinska-Seidler A; Bukowska-Olech E; Nguyen P; Jankowski A; Magielsen F; Matuszewska K; van Nieuwenhoven CA; Galjaard RH; de Klein A; Jamsheer A
Mol Genet Genomics; 2022 Sep; 297(5):1343-1352. PubMed ID: 35821352
[TBL] [Abstract][Full Text] [Related]
10. Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.
Kantaputra PN; Chalidapong P
Am J Med Genet; 2000 Jul; 93(2):126-31. PubMed ID: 10869115
[TBL] [Abstract][Full Text] [Related]
11. Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the
Shi L; Huang H; Jiang Q; Huang R; Fu W; Mao L; Wei X; Cui H; Lin K; Cai L; Yang Y; Wang Y; Wu J
Front Genet; 2020; 11():130. PubMed ID: 32184803
[TBL] [Abstract][Full Text] [Related]
12. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
Wieczorek D; Pawlik B; Li Y; Akarsu NA; Caliebe A; May KJ; Schweiger B; Vargas FR; Balci S; Gillessen-Kaesbach G; Wollnik B
Hum Mutat; 2010 Jan; 31(1):81-9. PubMed ID: 19847792
[TBL] [Abstract][Full Text] [Related]
13. A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.
Klopocki E; Ott CE; Benatar N; Ullmann R; Mundlos S; Lehmann K
J Med Genet; 2008 Jun; 45(6):370-5. PubMed ID: 18178630
[TBL] [Abstract][Full Text] [Related]
14. [Genetic analysis of one family with congenital limb malformations].
Cai F; Ma J; Pan R; Wang C; Li W; Cai C; Lin S; Shu J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Sep; 36(9):890-892. PubMed ID: 31515783
[TBL] [Abstract][Full Text] [Related]
15. A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
Álvarez LFG; Tenorio-Castaño J; Poletta FA; Santos-Simarro F; Arias P; Gallego N; Orioli IM; Mundlos S; Castilla EE; Martínez-Glez V; Martínez-Frías ML; Ruiz-Pérez VL; Nevado J; Lapunzina P
Am J Med Genet A; 2023 Jan; 191(1):100-107. PubMed ID: 36308343
[TBL] [Abstract][Full Text] [Related]
16. A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.
Girisha KM; Bidchol AM; Kamath PS; Shah KH; Mortier GR; Mundlos S; Shah H
Am J Med Genet A; 2014 Apr; 164A(4):898-906. PubMed ID: 24478176
[TBL] [Abstract][Full Text] [Related]
17. A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
Laurell T; Vandermeer JE; Wenger AM; Grigelioniene G; Nordenskjöld A; Arner M; Ekblom AG; Bejerano G; Ahituv N; Nordgren A
Hum Mutat; 2012 Jul; 33(7):1063-6. PubMed ID: 22495965
[TBL] [Abstract][Full Text] [Related]
18. Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.
Vanlerberghe C; Faivre L; Petit F; Fruchart O; Jourdain AS; Clavier F; Gay S; Manouvrier-Hanu S; Escande F
Clin Genet; 2015 Nov; 88(5):479-83. PubMed ID: 25382487
[TBL] [Abstract][Full Text] [Related]
19. Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree.
Yang X; Shen Q; Sulaiman X; Liu H; Peng M; Zhang Y
Hereditas; 2018; 155():2. PubMed ID: 28690477
[TBL] [Abstract][Full Text] [Related]
20. Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36.
Al-Qattan MM; Shamseldin HE; Al Mazyad M; Al Deghaither S; Alkuraya FS
Am J Med Genet A; 2013 Jul; 161A(7):1579-84. PubMed ID: 23686920
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
