161 related articles for article (PubMed ID: 27272187)
1. A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.
Watson CM; Crinnion LA; Harrison SM; Lascelles C; Antanaviciute A; Carr IM; Bonthron DT; Sheridan E
PLoS One; 2016; 11(6):e0157075. PubMed ID: 27272187
[TBL] [Abstract][Full Text] [Related]
2. Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.
Tas E; Sebastian J; Madan-Khetarpal S; Sweet P; Yatsenko AN; Pollock N; Rajkovic A; Schneck FX; Yatsenko SA; Witchel SF
Am J Med Genet A; 2017 Jan; 173(1):221-224. PubMed ID: 27649277
[TBL] [Abstract][Full Text] [Related]
3. Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.
Imagawa E; Kayserili H; Nishimura G; Nakashima M; Tsurusaki Y; Saitsu H; Ikegawa S; Matsumoto N; Miyake N
Am J Med Genet A; 2014 Sep; 164A(9):2398-402. PubMed ID: 24934387
[TBL] [Abstract][Full Text] [Related]
4. Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.
Wallis M; Tsurusaki Y; Burgess T; Borzi P; Matsumoto N; Miyake N; True D; Patel C
Am J Med Genet A; 2016 Mar; 170(3):717-24. PubMed ID: 26590955
[TBL] [Abstract][Full Text] [Related]
5. A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family.
Cao L; Chen C; Leng Y; Yan L; Wang S; Zhang X; Luo Y
J Genet; 2017 Sep; 96(4):647-652. PubMed ID: 28947713
[TBL] [Abstract][Full Text] [Related]
6. Bilateral split hand/foot malformation and inv(7)(p22q21.3).
Cobben JM; Verheij JB; Eisma WH; Robinson PH; Zwierstra RP; Leegte B; Castedo S
J Med Genet; 1995 May; 32(5):375-8. PubMed ID: 7616545
[TBL] [Abstract][Full Text] [Related]
7. Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly.
Lodder EM; Eussen BH; van Hassel DA; Hoogeboom AJ; Poddighe PJ; Coert JH; Oostra BA; de Klein A; de Graaff E
Chromosome Res; 2009; 17(6):737-44. PubMed ID: 19672683
[TBL] [Abstract][Full Text] [Related]
8. Multifaceted Hoxa13 function in urogenital development underlies the Hand-Foot-Genital Syndrome.
Roux M; Bouchard M; Kmita M
Hum Mol Genet; 2019 May; 28(10):1671-1681. PubMed ID: 30649340
[TBL] [Abstract][Full Text] [Related]
9. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
Goodman FR; Bacchelli C; Brady AF; Brueton LA; Fryns JP; Mortlock DP; Innis JW; Holmes LB; Donnenfeld AE; Feingold M; Beemer FA; Hennekam RC; Scambler PJ
Am J Hum Genet; 2000 Jul; 67(1):197-202. PubMed ID: 10839976
[TBL] [Abstract][Full Text] [Related]
10. Hand-foot-genital syndrome - analysis of two cases.
Piazza MJ; Urbanetz AA
JBRA Assist Reprod; 2018 Jun; 22(2):157-159. PubMed ID: 29638102
[TBL] [Abstract][Full Text] [Related]
11. Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.
Peng Y; Yang S; Xi H; Hu J; Jia Z; Pang J; Liu J; Yu W; Tang C; Wang H
Mol Genet Genomic Med; 2021 Mar; 9(3):e1604. PubMed ID: 33471964
[TBL] [Abstract][Full Text] [Related]
12. Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome.
Hosoki K; Ohta T; Fujita K; Nishigaki S; Shiomi M; Niikawa N; Saitoh S
Pediatr Int; 2012 Jun; 54(3):e22-5. PubMed ID: 22631585
[No Abstract] [Full Text] [Related]
13. Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome.
Parker L; Mangwani J; Wakeling E; Singh D
Foot Ankle Surg; 2011 Jun; 17(2):e28-30. PubMed ID: 21549968
[TBL] [Abstract][Full Text] [Related]
14. Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation.
Owens KM; Quinonez SC; Thomas PE; Keegan CE; Lefebvre N; Roulston D; Larsen CA; Stadler HS; Innis JW
Am J Med Genet A; 2013 May; 161A(5):1019-27. PubMed ID: 23532960
[TBL] [Abstract][Full Text] [Related]
15. Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.
Obenauf AC; Schwarzbraun T; Auer M; Hoffmann EM; Waldispuehl-Geigl J; Ulz P; Günther B; Duba HC; Speicher MR; Geigl JB
J Cell Mol Med; 2010 Aug; 14(8):2078-84. PubMed ID: 20597996
[TBL] [Abstract][Full Text] [Related]
16. Hand-foot-genital syndrome due to a duplication variant in the GC-rich region of HOXA13.
Geng W; Li F; Zhang R; Cao L; Du X; Gu W; Xu M
Eur J Med Genet; 2023 Mar; 66(3):104711. PubMed ID: 36702441
[TBL] [Abstract][Full Text] [Related]
17. A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies.
Jorgensen EM; Ruman JI; Doherty L; Taylor HS
Fertil Steril; 2010 Sep; 94(4):1235-1238. PubMed ID: 19591980
[TBL] [Abstract][Full Text] [Related]
18. [Hand-foot-genital syndrome].
Mitsubuchi H; Endo F
Nihon Rinsho; 2006 Jun; Suppl 2():647-8. PubMed ID: 16817484
[No Abstract] [Full Text] [Related]
19. Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.
van Silfhout AT; van den Akker PC; Dijkhuizen T; Verheij JB; Olderode-Berends MJ; Kok K; Sikkema-Raddatz B; van Ravenswaaij-Arts CM
Eur J Hum Genet; 2009 Nov; 17(11):1432-8. PubMed ID: 19401716
[TBL] [Abstract][Full Text] [Related]
20. Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.
Scherer SW; Poorkaj P; Massa H; Soder S; Allen T; Nunes M; Geshuri D; Wong E; Belloni E; Little S
Hum Mol Genet; 1994 Aug; 3(8):1345-54. PubMed ID: 7987313
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]