221 related articles for article (PubMed ID: 20015959)
1. A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.
Maass PG; Wirth J; Aydin A; Rump A; Stricker S; Tinschert S; Otero M; Tsuchimochi K; Goldring MB; Luft FC; Bähring S
Hum Mol Genet; 2010 Mar; 19(5):848-60. PubMed ID: 20015959
[TBL] [Abstract][Full Text] [Related]
2. Brachydactyly type C gene maps to human chromsome 12q24.
Polymeropoulos MH; Ide SE; Magyari T; Francomano CA
Genomics; 1996 Nov; 38(1):45-50. PubMed ID: 8954778
[TBL] [Abstract][Full Text] [Related]
3. A misplaced lncRNA causes brachydactyly in humans.
Maass PG; Rump A; Schulz H; Stricker S; Schulze L; Platzer K; Aydin A; Tinschert S; Goldring MB; Luft FC; Bähring S
J Clin Invest; 2012 Nov; 122(11):3990-4002. PubMed ID: 23093776
[TBL] [Abstract][Full Text] [Related]
4. Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.
Flöttmann R; Sowinska-Seidler A; Lavie J; Chateil JF; Lacombe D; Mundlos S; Horn D; Spielmann M
Eur J Hum Genet; 2016 Aug; 24(8):1132-6. PubMed ID: 26733284
[TBL] [Abstract][Full Text] [Related]
5. Deletion and point mutations of PTHLH cause brachydactyly type E.
Klopocki E; Hennig BP; Dathe K; Koll R; de Ravel T; Baten E; Blom E; Gillerot Y; Weigel JF; Krüger G; Hiort O; Seemann P; Mundlos S
Am J Hum Genet; 2010 Mar; 86(3):434-9. PubMed ID: 20170896
[TBL] [Abstract][Full Text] [Related]
6. Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.
Collinson M; Leonard SJ; Charlton J; Crolla JA; Silve C; Hall CM; Oglivie C; James MA; Smithson SF
Am J Med Genet A; 2010 Dec; 152A(12):3124-8. PubMed ID: 21082660
[TBL] [Abstract][Full Text] [Related]
7. A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum.
Huang J; Liu HY; Wang RR; Xiao H; Wu D; Li T; Jiang YH; Zhang X
Chin Med J (Engl); 2019 Jul; 132(14):1681-1688. PubMed ID: 31283647
[TBL] [Abstract][Full Text] [Related]
8. Inverted insertion of chromosome 7q and ectrodactyly.
Naritomi K; Izumikawa Y; Tohma T; Hirayama K
Am J Med Genet; 1993 Jun; 46(5):492-3. PubMed ID: 8322806
[TBL] [Abstract][Full Text] [Related]
9. Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease.
Deshwar AR; Spielmann M; Vi L; Mendoza-Londono R; Dupuis L; Stimec J; Howard A; Harrington J; Kannu P
Am J Med Genet A; 2019 Apr; 179(4):663-667. PubMed ID: 30803154
[TBL] [Abstract][Full Text] [Related]
10. Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.
Jamsheer A; Sowińska-Seidler A; Olech EM; Socha M; Kozłowski K; Pyrkosz A; Trzeciak T; Materna-Kiryluk A; Latos-Bieleńska A
J Hum Genet; 2016 May; 61(5):457-61. PubMed ID: 26763883
[TBL] [Abstract][Full Text] [Related]
11. A case report of brachydactyly types D and E: a new variation of brachydactyly.
Ridgeway S; Tai CC; Singh D
Foot Ankle Int; 2004 Jun; 25(6):419-22. PubMed ID: 15215028
[No Abstract] [Full Text] [Related]
12. Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.
Lohan S; Spielmann M; Doelken SC; Flöttmann R; Muhammad F; Baig SM; Wajid M; Hülsemann W; Habenicht R; Kjaer KW; Patil SJ; Girisha KM; Abarca-Barriga HH; Mundlos S; Klopocki E
Clin Genet; 2014 Oct; 86(4):318-25. PubMed ID: 24456159
[TBL] [Abstract][Full Text] [Related]
13. An unusual family with brachydactyly.
Silva EO
Am J Med Genet A; 2003 Mar; 117A(2):191-3. PubMed ID: 12567422
[No Abstract] [Full Text] [Related]
14. A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.
Sun J; Yang N; Xu Z; Cheng H; Zhang X
Mol Genet Genomic Med; 2024 Feb; 12(2):e2393. PubMed ID: 38407575
[TBL] [Abstract][Full Text] [Related]
15. Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.
Thomas-Teinturier C; Pereda A; Garin I; Diez-Lopez I; Linglart A; Silve C; de Nanclares GP
Am J Med Genet A; 2016 Mar; 170(3):734-42. PubMed ID: 26640227
[TBL] [Abstract][Full Text] [Related]
16. A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.
Cinque L; Micale L; Manara E; Esposito A; Palumbo O; Chiariello AM; Bianco S; Guerri G; Bertelli M; Giuffrida MG; Bernardini L; Notarangelo A; Nicodemi M; Castori M
Hum Genet; 2022 Feb; 141(2):217-227. PubMed ID: 34821995
[TBL] [Abstract][Full Text] [Related]
17. Ectrodactyly and 7q22.1.
Rivera H
Am J Med Genet; 1994 Oct; 53(1):89-90. PubMed ID: 7802046
[No Abstract] [Full Text] [Related]
18. A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.
Babbs C; Heller R; Everman DB; Crocker M; Twigg SR; Schwartz CE; Giele H; Wilkie AO
Hum Genet; 2007 Sep; 122(2):191-9. PubMed ID: 17569090
[TBL] [Abstract][Full Text] [Related]
19. Monosomy 5p and trisomy 12p in a boy with familial balanced translocation.
Vasudevan PC; Parker MJ
Clin Dysmorphol; 2006 Apr; 15(2):85-7. PubMed ID: 16531734
[TBL] [Abstract][Full Text] [Related]
20. Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.
Gong Y; Chitayat D; Kerr B; Chen T; Babul-Hirji R; Pal A; Reiss M; Warman ML
Am J Hum Genet; 1999 Feb; 64(2):570-7. PubMed ID: 9973295
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
