197 related articles for article (PubMed ID: 24376213)
1. Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.
Ferrarini A; Gaillard M; Guerry F; Ramelli G; Heidi F; Keddache CV; Wieland I; Beckmann JS; Jaquemont S; Martinet D
Am J Med Genet A; 2014 Feb; 164A(2):346-52. PubMed ID: 24376213
[TBL] [Abstract][Full Text] [Related]
2. Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.
McCool C; Spinks-Franklin A; Noroski LM; Potocki L
Am J Med Genet A; 2017 Mar; 173(3):716-720. PubMed ID: 28127865
[TBL] [Abstract][Full Text] [Related]
3. A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
Montgomery ND; Turcott CM; Tepperberg JH; McDonald MT; Aylsworth AS
Am J Med Genet A; 2013 Jan; 161A(1):198-202. PubMed ID: 23239541
[TBL] [Abstract][Full Text] [Related]
4. A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.
Labonne JD; Vogt J; Reali L; Kong IK; Layman LC; Kim HG
Am J Med Genet A; 2015 Dec; 167A(12):3011-8. PubMed ID: 26333423
[TBL] [Abstract][Full Text] [Related]
5. The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.
Sohn YB; Yim SY; Cho EH; Kim OH
J Korean Med Sci; 2015 Feb; 30(2):214-7. PubMed ID: 25653495
[TBL] [Abstract][Full Text] [Related]
6. Hypertension in Potocki-Shaffer syndrome: A case report.
Wissman SD; McCool C; Potocki L; Elenberg E
Eur J Med Genet; 2020 Jan; 63(1):103633. PubMed ID: 30797056
[TBL] [Abstract][Full Text] [Related]
7. Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
Wakui K; Gregato G; Ballif BC; Glotzbach CD; Bailey KA; Kuo PL; Sue WC; Sheffield LJ; Irons M; Gomez EG; Hecht JT; Potocki L; Shaffer LG
Eur J Hum Genet; 2005 May; 13(5):528-40. PubMed ID: 15852040
[TBL] [Abstract][Full Text] [Related]
8. Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.
Wu YQ; Badano JL; McCaskill C; Vogel H; Potocki L; Shaffer LG
Am J Hum Genet; 2000 Nov; 67(5):1327-32. PubMed ID: 11017806
[TBL] [Abstract][Full Text] [Related]
9. De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.
Hamanaka K; Sugawara Y; Shimoji T; Nordtveit TI; Kato M; Nakashima M; Saitsu H; Suzuki T; Yamakawa K; Aukrust I; Houge G; Mitsuhashi S; Takata A; Iwama K; Alkanaq A; Fujita A; Imagawa E; Mizuguchi T; Miyake N; Miyatake S; Matsumoto N
Eur J Hum Genet; 2019 Mar; 27(3):378-383. PubMed ID: 30487643
[TBL] [Abstract][Full Text] [Related]
10. Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation.
Bertola DR; Rodrigues MG; Quaio CR; Kim CA; Passos-Bueno MR
Am J Med Genet A; 2013 Mar; 161A(3):600-4. PubMed ID: 23401352
[TBL] [Abstract][Full Text] [Related]
11. A Novel Missense Variant in the
Hussain S; Umm-E-Kalsoom ; Ullah I; Liaqat K; Nawaz S; Ahmad W
Genet Test Mol Biomarkers; 2020 Apr; 24(4):217-223. PubMed ID: 32216639
[No Abstract] [Full Text] [Related]
12. Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.
Swarr DT; Bloom D; Lewis RA; Elenberg E; Friedman EM; Glotzbach C; Wissman SD; Shaffer LG; Potocki L
Am J Med Genet A; 2010 Mar; 152A(3):565-72. PubMed ID: 20140962
[TBL] [Abstract][Full Text] [Related]
13. Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing.
Meng Y; Yang J; Tian C; Qiao J
Hereditas; 2020 May; 157(1):23. PubMed ID: 32446308
[TBL] [Abstract][Full Text] [Related]
14.
Vargel I; Canter HI; Kucukguven A; Aydin A; Ozgur F
Cleft Palate Craniofac J; 2022 May; 59(5):637-643. PubMed ID: 34098755
[TBL] [Abstract][Full Text] [Related]
15. 11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies.
Chen X; Xu H; Shi W; Wang F; Xu F; Zhang Y; Gan J; Tian X; Chen B; Dai M
BMC Med Genomics; 2021 Apr; 14(1):99. PubMed ID: 33836758
[TBL] [Abstract][Full Text] [Related]
16. Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4.
Peled A; Sarig O; Mohamad J; Eskin-Schwartz M; Vodo D; Bochner R; Malchin N; Isakov O; Shomron N; Fainberg G; Bertolini M; Paus R; Sprecher E
Am J Med Genet A; 2023 Dec; 191(12):2806-2812. PubMed ID: 37724761
[TBL] [Abstract][Full Text] [Related]
17. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Kim HG; Kim HT; Leach NT; Lan F; Ullmann R; Silahtaroglu A; Kurth I; Nowka A; Seong IS; Shen Y; Talkowski ME; Ruderfer D; Lee JH; Glotzbach C; Ha K; Kjaergaard S; Levin AV; Romeike BF; Kleefstra T; Bartsch O; Elsea SH; Jabs EW; MacDonald ME; Harris DJ; Quade BJ; Ropers HH; Shaffer LG; Kutsche K; Layman LC; Tommerup N; Kalscheuer VM; Shi Y; Morton CC; Kim CH; Gusella JF
Am J Hum Genet; 2012 Jul; 91(1):56-72. PubMed ID: 22770980
[TBL] [Abstract][Full Text] [Related]
18. Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.
El-Ruby M; El-Din Fayez A; El-Dessouky SH; Aglan MS; Mazen I; Ismail N; Afifi HH; Eid MM; Mostafa MI; Mehrez MI; Khalil Y; Zaki MS; Gaber KR; Abdel-Hamid MS; Abdel-Salam GMH
Am J Med Genet A; 2018 May; 176(5):1190-1194. PubMed ID: 29681084
[TBL] [Abstract][Full Text] [Related]
19. Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.
Brémond-Gignac D; Crolla JA; Copin H; Guichet A; Bonneau D; Taine L; Lacombe D; Baumann C; Benzacken B; Verloes A
Eur J Hum Genet; 2005 Apr; 13(4):409-13. PubMed ID: 15702131
[TBL] [Abstract][Full Text] [Related]
20. Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.
Hall CR; Wu Y; Shaffer LG; Hecht JT
Clin Genet; 2001 Nov; 60(5):356-9. PubMed ID: 11903336
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]