141 related articles for article (PubMed ID: 31953237)
1. A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum.
Zhang T; Wu Q; Zhu L; Wu D; Yang R; Qi M; Huang X
Eur J Med Genet; 2020 Apr; 63(4):103851. PubMed ID: 31953237
[TBL] [Abstract][Full Text] [Related]
2. Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.
Bhoj EJ; Li D; Harr MH; Tian L; Wang T; Zhao Y; Qiu H; Kim C; Hoffman JD; Hakonarson H; Zackai EH
Am J Med Genet A; 2015 Nov; 167A(11):2497-502. PubMed ID: 26111080
[TBL] [Abstract][Full Text] [Related]
3. Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
Bhoj EJ; Haye D; Toutain A; Bonneau D; Nielsen IK; Lund IB; Bogaard P; Leenskjold S; Karaer K; Wild KT; Grand KL; Astiazaran MC; Gonzalez-Nieto LA; Carvalho A; Lehalle D; Amudhavalli SM; Repnikova E; Saunders C; Thiffault I; Saadi I; Li D; Hakonarson H; Vial Y; Zackai E; Callier P; Drunat S; Verloes A
Eur J Med Genet; 2019 Dec; 62(12):103588. PubMed ID: 30472488
[TBL] [Abstract][Full Text] [Related]
4. Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Li D; March ME; Fortugno P; Cox LL; Matsuoka LS; Monetta R; Seiler C; Pyle LC; Bedoukian EC; Sánchez-Soler MJ; Caluseriu O; Grand K; Tam A; Aycinena ARP; Camerota L; Guo Y; Sleiman P; Callewaert B; Kumps C; Dheedene A; Buckley M; Kirk EP; Turner A; Kamien B; Patel C; Wilson M; Roscioli T; Christodoulou J; Cox TC; Zackai EH; Brancati F; Hakonarson H; Bhoj EJ
Hum Genet; 2021 Jul; 140(7):1061-1076. PubMed ID: 33811546
[TBL] [Abstract][Full Text] [Related]
5. Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
Kruszka P; Li D; Harr MH; Wilson NR; Swarr D; McCormick EM; Chiavacci RM; Li M; Martinez AF; Hart RA; McDonald-McGinn DM; Deardorff MA; Falk MJ; Allanson JE; Hudson C; Johnson JP; Saadi I; Hakonarson H; Muenke M; Zackai EH
J Med Genet; 2015 Feb; 52(2):104-10. PubMed ID: 25412741
[TBL] [Abstract][Full Text] [Related]
6. Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.
Wild KT; Gordon T; Bhoj EJ; Du H; Jhangiani SN; Posey JE; Lupski JR; Scott DA; Zackai EH
Am J Med Genet A; 2020 Dec; 182(12):2919-2925. PubMed ID: 32954677
[TBL] [Abstract][Full Text] [Related]
7.
Migliore C; Vendramin A; McKee S; Prontera P; Faravelli F; Sachdev R; Dias P; Mascaro M; Licastro D; Meroni G
Genes (Basel); 2022 Jan; 13(2):. PubMed ID: 35205294
[TBL] [Abstract][Full Text] [Related]
8. [Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene].
Li Z; Wang Y; Li X; Feng B; Gu S; Yang F; Chang G; Wang J; Wang X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):998-1003. PubMed ID: 37532501
[TBL] [Abstract][Full Text] [Related]
9. Teebi hypertelorism syndrome: further observations.
Tsukahara M; Uchida M; Shinohara T
Am J Med Genet; 1995 Oct; 59(1):59-61. PubMed ID: 8849013
[TBL] [Abstract][Full Text] [Related]
10. A novel p.Pro871Leu missense mutation in SPECC1L gene causing craniosynostosis in a patient.
Bai S; Geng Y; Duan H; Xu L; Yu Z; Yuan J; Wei M
Orthod Craniofac Res; 2021 Nov; 24(4):480-485. PubMed ID: 33527670
[TBL] [Abstract][Full Text] [Related]
11. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
Alders M; Al-Gazali L; Cordeiro I; Dallapiccola B; Garavelli L; Tuysuz B; Salehi F; Haagmans MA; Mook OR; Majoie CB; Mannens MM; Hennekam RC
Hum Genet; 2014 Sep; 133(9):1161-7. PubMed ID: 24913602
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Teebi hypertelorism syndrome: report of a third family.
Toriello HV; Delp K
Clin Dysmorphol; 1994 Oct; 3(4):335-9. PubMed ID: 7894738
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.
Jamsheer A; Sowińska-Seidler A; Socha M; Stembalska A; Kiraly-Borri C; Latos-Bieleńska A
Gene; 2014 Apr; 539(1):157-61. PubMed ID: 24508941
[TBL] [Abstract][Full Text] [Related]
16. A newborn diagnosed with van Maldergem syndrome.
Ulubas Isik D; Unal S; Erol S; Arslan Z; Bas AY; Demirel N
Clin Dysmorphol; 2018 Apr; 27(2):63-65. PubMed ID: 29505454
[No Abstract] [Full Text] [Related]
17. A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant.
Kuroda Y; Saito Y; Enomoto Y; Naruto T; Kurosawa K
Am J Med Genet A; 2024 Jan; 194(1):94-99. PubMed ID: 37646430
[TBL] [Abstract][Full Text] [Related]
18. New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome.
Elliott AM; Teebi AS
Clin Dysmorphol; 2000 Jan; 9(1):15-9. PubMed ID: 10649791
[TBL] [Abstract][Full Text] [Related]
19. The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.
Gripp KW; Baker L; Telegrafi A; Monaghan KG
Am J Med Genet A; 2016 Jul; 170(7):1754-62. PubMed ID: 27112773
[TBL] [Abstract][Full Text] [Related]
20. Teebi hypertelorism syndrome with tetralogy of Fallot.
Nakagawa M; Kondo M; Matsui A
Am J Med Genet; 1998 Jun; 77(5):345-7. PubMed ID: 9632162
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]