139 related articles for article (PubMed ID: 37038048)
1. Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Lecca M; Bedeschi MF; Izzi C; Dordoni C; Rinaldi B; Peluso F; Caraffi SG; Prefumo F; Signorelli M; Zanzucchi M; Bione S; Ghigna C; Sassi S; Novelli A; Valente EM; Superti-Furga A; Garavelli L; Errichiello E
Clin Genet; 2023 Aug; 104(2):230-237. PubMed ID: 37038048
[TBL] [Abstract][Full Text] [Related]
2. Identification of novel LFNG mutations in spondylocostal dysostosis.
Otomo N; Mizumoto S; Lu HF; Takeda K; Campos-Xavier B; Mittaz-Crettol L; Guo L; Takikawa K; Nakamura M; Yamada S; Matsumoto M; Watanabe K; Ikegawa S
J Hum Genet; 2019 Mar; 64(3):261-264. PubMed ID: 30531807
[TBL] [Abstract][Full Text] [Related]
3. Homozygous DMRT2 variant associates with severe rib malformations in a newborn.
Bouman A; Waisfisz Q; Admiraal J; van de Loo M; van Rijn RR; Micha D; Oostra RJ; Mathijssen IB
Am J Med Genet A; 2018 May; 176(5):1216-1221. PubMed ID: 29681102
[TBL] [Abstract][Full Text] [Related]
4. Bi-allelic loss of function variants of
Otomo N; Takeda K; Kawai S; Kou I; Guo L; Osawa M; Alev C; Kawakami N; Miyake N; Matsumoto N; Yasuhiko Y; Kotani T; Suzuki T; Uno K; Sudo H; Inami S; Taneichi H; Shigematsu H; Watanabe K; Yonezawa I; Sugawara R; Taniguchi Y; Minami S; Kaneko K; Nakamura M; Matsumoto M; Toguchida J; Watanabe K; Ikegawa S
J Med Genet; 2019 Sep; 56(9):622-628. PubMed ID: 31015262
[TBL] [Abstract][Full Text] [Related]
5. Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
Lefebvre M; Dieux-Coeslier A; Baujat G; Schaefer E; Judith SO; Bazin A; Pinson L; Attie-Bitach T; Baumann C; Fradin M; Pierquin G; Julia S; Quélin C; Doray B; Berg S; Vincent-Delorme C; Lambert L; Bachmann N; Lacombe D; Isidor B; Laurent N; Joelle R; Blanchet P; Odent S; Kervran D; Leporrier N; Abel C; Segers K; Guiliano F; Ginglinger-Fabre E; Selicorni A; Goldenberg A; El Chehadeh S; Francannet C; Demeer B; Duffourd Y; Thauvin-Robinet C; Verloes A; Cormier-Daire V; Riviere JB; Faivre L; Thevenon J
J Med Genet; 2018 Jun; 55(6):422-429. PubMed ID: 29459493
[TBL] [Abstract][Full Text] [Related]
6. Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG.
Gucev ZS; Tasic V; Pop-Jordanova N; Sparrow DB; Dunwoodie SL; Ellard S; Young E; Turnpenny PD
Am J Med Genet A; 2010 Jun; 152A(6):1378-82. PubMed ID: 20503311
[TBL] [Abstract][Full Text] [Related]
7. Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
Sparrow DB; McInerney-Leo A; Gucev ZS; Gardiner B; Marshall M; Leo PJ; Chapman DL; Tasic V; Shishko A; Brown MA; Duncan EL; Dunwoodie SL
Hum Mol Genet; 2013 Apr; 22(8):1625-31. PubMed ID: 23335591
[TBL] [Abstract][Full Text] [Related]
8. Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review.
Wang L; Mizumoto S; Zhang R; Zhang Y; Liu Y; Cheng W; Li X; Dan M; Zhang C; Gao X; Wang J; Han J; Jiao L; Wang Y; Jin Q; Yang L; Li C; Li S; Zhu J; Jiang H; Nishimura G; Yamada T; Yamada S; Cai N; Qiang R; Guo L
J Hum Genet; 2024 Jul; 69(7):321-327. PubMed ID: 38565611
[TBL] [Abstract][Full Text] [Related]
9. Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.
Lefebvre M; Duffourd Y; Jouan T; Poe C; Jean-Marçais N; Verloes A; St-Onge J; Riviere JB; Petit F; Pierquin G; Demeer B; Callier P; Thauvin-Robinet C; Faivre L; Thevenon J
Clin Genet; 2017 Jun; 91(6):908-912. PubMed ID: 27861764
[TBL] [Abstract][Full Text] [Related]
10. Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.
Bouchoucha S; Chikhaoui A; Najjar D; Zayoud K; Zouari M; Nessib MN; Kéfi R; Yacoub-Youssef H
Front Pediatr; 2023; 11():1132023. PubMed ID: 37744435
[TBL] [Abstract][Full Text] [Related]
11. Screening of known disease genes in congenital scoliosis.
Takeda K; Kou I; Mizumoto S; Yamada S; Kawakami N; Nakajima M; Otomo N; Ogura Y; Miyake N; Matsumoto N; Kotani T; Sudo H; Yonezawa I; Uno K; Taneichi H; Watanabe K; Shigematsu H; Sugawara R; Taniguchi Y; Minami S; Nakamura M; Matsumoto M; ; Watanabe K; Ikegawa S
Mol Genet Genomic Med; 2018 Nov; 6(6):966-974. PubMed ID: 30196550
[TBL] [Abstract][Full Text] [Related]
12. Identification of a Novel Nonsense Variant in the
Khan F; Arshad A; Ullah A; Steenackers E; Mortier G; Ahmad W; Arshad M; Khan S; Hayat A; Khan I; Khan MA; Van Hul W
Mol Syndromol; 2023 Jun; 14(3):191-200. PubMed ID: 37323197
[TBL] [Abstract][Full Text] [Related]
13. Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat.
Abe K; Takamatsu N; Ishikawa K; Tsurumi T; Tanimoto S; Sakurai Y; Lisse TS; Imai K; Serikawa T; Mashimo T
PLoS One; 2015; 10(6):e0130231. PubMed ID: 26090680
[TBL] [Abstract][Full Text] [Related]
14. Altered Cogs of the Clock: Insights into the Embryonic Etiology of Spondylocostal Dysostosis.
Nóbrega A; Maia-Fernandes AC; Andrade RP
J Dev Biol; 2021 Jan; 9(1):. PubMed ID: 33572886
[TBL] [Abstract][Full Text] [Related]
15. Recapitulating the human segmentation clock with pluripotent stem cells.
Matsuda M; Yamanaka Y; Uemura M; Osawa M; Saito MK; Nagahashi A; Nishio M; Guo L; Ikegawa S; Sakurai S; Kihara S; Maurissen TL; Nakamura M; Matsumoto T; Yoshitomi H; Ikeya M; Kawakami N; Yamamoto T; Woltjen K; Ebisuya M; Toguchida J; Alev C
Nature; 2020 Apr; 580(7801):124-129. PubMed ID: 32238941
[TBL] [Abstract][Full Text] [Related]
16. Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.
Sparrow DB; Faqeih EA; Sallout B; Alswaid A; Ababneh F; Al-Sayed M; Rukban H; Eyaid WM; Kageyama R; Ellard S; Turnpenny PD; Dunwoodie SL
Am J Med Genet A; 2013 Sep; 161A(9):2244-9. PubMed ID: 23897666
[TBL] [Abstract][Full Text] [Related]
17. Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis.
Chapman G; Sparrow DB; Kremmer E; Dunwoodie SL
Hum Mol Genet; 2011 Mar; 20(5):905-16. PubMed ID: 21147753
[TBL] [Abstract][Full Text] [Related]
18. An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.
Errichiello E; Arossa A; Iasci A; Villa R; Ischia B; Pavesi MA; Rizzuti T; Bedeschi MF; Zuffardi O
Clin Genet; 2020 Dec; 98(6):628-629. PubMed ID: 33058178
[No Abstract] [Full Text] [Related]
19. Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.
Serey-Gaut M; Scala M; Reversade B; Ruaud L; Cabrol C; Musacchia F; Torella A; Accogli A; Escande-Beillard N; Langlais J; Piatelli G; Consales A; Nigro V; Capra V; Van Maldergem L
Am J Med Genet A; 2020 Jun; 182(6):1466-1472. PubMed ID: 32212228
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
