171 related articles for article (PubMed ID: 23813949)
1. Craniosynostosis and radial ray defect: a rare presentation of 22q11.2 deletion syndrome.
Rojnueangnit K; Robin NH
Am J Med Genet A; 2013 Aug; 161A(8):2024-6. PubMed ID: 23813949
[TBL] [Abstract][Full Text] [Related]
2. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J; Aral B; Vabres P; Holder-Espinasse M; Mégarbané A; Gauthier S; Capra V; Pierquin G; Callier P; Baumann C; Pasquier L; Baujat G; Martorell L; Rodriguez A; Brady AF; Boralevi F; González-Enseñat MA; Rio M; Bodemer C; Philip N; Cordier MP; Goldenberg A; Demeer B; Wright M; Blair E; Puzenat E; Parent P; Sznajer Y; Francannet C; DiDonato N; Boute O; Barlogis V; Moldovan O; Bessis D; Coubes C; Tardieu M; Cormier-Daire V; Sousa AB; Franques J; Toutain A; Tajir M; Elalaoui SC; Geneviève D; Thevenon J; Courcet JB; Rivière JB; Collet C; Gigot N; Faivre L; Thauvin-Robinet C
Clin Genet; 2015 Mar; 87(3):244-51. PubMed ID: 24635570
[TBL] [Abstract][Full Text] [Related]
3. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
Van Maldergem L; Siitonen HA; Jalkh N; Chouery E; De Roy M; Delague V; Muenke M; Jabs EW; Cai J; Wang LL; Plon SE; Fourneau C; Kestilä M; Gillerot Y; Mégarbané A; Verloes A
J Med Genet; 2006 Feb; 43(2):148-52. PubMed ID: 15964893
[TBL] [Abstract][Full Text] [Related]
4. Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity.
De Silva D; Duffty P; Booth P; Auchterlonie I; Morrison N; Dean JC
Clin Dysmorphol; 1995 Oct; 4(4):294-303. PubMed ID: 8574419
[TBL] [Abstract][Full Text] [Related]
5. Baller-Gerold syndrome associated with dextrocardia.
Ceylan A; Peker E; Dogan M; Tuncer O; Kirimi E
Genet Couns; 2011; 22(1):69-74. PubMed ID: 21614991
[TBL] [Abstract][Full Text] [Related]
6. Nationwide survey of Baller‑Gerold syndrome in Japanese population.
Kaneko H; Izumi R; Oda H; Ohara O; Sameshima K; Ohnishi H; Fukao T; Funato M
Mol Med Rep; 2017 May; 15(5):3222-3224. PubMed ID: 28358413
[TBL] [Abstract][Full Text] [Related]
7. Severe craniosynostosis in an infant with deletion 22q11.2 syndrome.
Al-Hertani W; Hastings VA; McGowan-Jordan J; Hurteau J; Graham GE
Am J Med Genet A; 2013 Jan; 161A(1):153-7. PubMed ID: 23239640
[TBL] [Abstract][Full Text] [Related]
8. TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.
Gripp KW; Stolle CA; Celle L; McDonald-McGinn DM; Whitaker LA; Zackai EH
Am J Med Genet; 1999 Jan; 82(2):170-6. PubMed ID: 9934984
[TBL] [Abstract][Full Text] [Related]
9. Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
Unolt M; DiCairano L; Schlechtweg K; Barry J; Howell L; Kasperski S; Nance M; Adzick NS; Zackai EH; McDonald-McGinn DM
Am J Med Genet A; 2017 Jan; 173(1):135-142. PubMed ID: 27682988
[TBL] [Abstract][Full Text] [Related]
10. TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T; Niihori T; Tanaka N; Kawai M; Nagashima T; Funayama R; Nakayama K; Nakashima S; Kato F; Fukami M; Aoki Y; Matsubara Y
PLoS One; 2014; 9(3):e91598. PubMed ID: 24637876
[TBL] [Abstract][Full Text] [Related]
11. Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome.
Preis S; Majewski F; Körholz D; Göbel U
Clin Dysmorphol; 1995 Apr; 4(2):161-8. PubMed ID: 7606324
[TBL] [Abstract][Full Text] [Related]
12. Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population.
Bahamat AA; Assidi M; Lary SA; Almughamsi MM; Peer Zada AA; Chaudhary A; Abuzenadah A; Abu-Elmagd M; Al-Qahtani M
Cytogenet Genome Res; 2018; 154(1):20-29. PubMed ID: 29455205
[TBL] [Abstract][Full Text] [Related]
13. Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
Unolt M; Kammoun M; Nowakowska B; Graham GE; Crowley TB; Hestand MS; Demaerel W; Geremek M; Emanuel BS; Zackai EH; Vermeesch JR; McDonald-McGinn D
Genet Med; 2020 Feb; 22(2):326-335. PubMed ID: 31474763
[TBL] [Abstract][Full Text] [Related]
14. The Baller-Gerold syndrome.
Van Maldergem L; Verloes A; Lejeune L; Gillerot Y
J Med Genet; 1992 Apr; 29(4):266-8. PubMed ID: 1583650
[TBL] [Abstract][Full Text] [Related]
15. FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities.
Yakut T; Kilic SS; Cil E; Yapici E; Egeli U
Pediatr Surg Int; 2006 Apr; 22(4):380-3. PubMed ID: 16463032
[TBL] [Abstract][Full Text] [Related]
16. Expanding the phenotypic spectrum of the Baller-Gerold syndrome.
Temtamy SA; Aglan MS; Nemat A; Eid M
Genet Couns; 2003; 14(3):299-312. PubMed ID: 14577674
[TBL] [Abstract][Full Text] [Related]
17. Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia.
Cuturilo G; Drakulic D; Jovanovic I; Krstic A; Djukic M; Skoric D; Mijovic M; Stefanovic I; Milivojevic M; Stevanovic M
Indian Pediatr; 2016 Sep; 53(9):786-789. PubMed ID: 27771646
[TBL] [Abstract][Full Text] [Related]
18. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
[TBL] [Abstract][Full Text] [Related]
19. Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome.
Pelias MZ; Superneau DW; Thurmon TF
Am J Med Genet; 1981; 10(2):133-9. PubMed ID: 7315870
[TBL] [Abstract][Full Text] [Related]
20. Baller-Gerold syndrome: case report and clinical and radiological review.
Dallapiccola B; Zelante L; Mingarelli R; Pellegrino M; Bertozzi V
Am J Med Genet; 1992 Feb; 42(3):365-8. PubMed ID: 1536180
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
