103 related articles for article (PubMed ID: 19460469)
1. Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome.
Uzumcu A; Karaman B; Toksoy G; Uyguner ZO; Candan S; Eris H; Tatli B; Geckinli B; Yuksel A; Kayserili H; Basaran S
Eur J Med Genet; 2009; 52(5):315-20. PubMed ID: 19460469
[TBL] [Abstract][Full Text] [Related]
2. Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome.
Uzumcu A; Candan S; Toksoy G; Uyguner ZO; Karaman B; Eris H; Tatli B; Kayserili H; Yuksel A; Geckinli B; Yuksel-Apak M; Basaran S
J Genet Genomics; 2009 Apr; 36(4):251-6. PubMed ID: 19376485
[TBL] [Abstract][Full Text] [Related]
3. Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family.
Kremer H; Kuyt LP; van den Helm B; van Reen M; Leunissen JA; Hamel BC; Jansen C; Mariman EC; Frants RR; Padberg GW
Hum Mol Genet; 1996 Sep; 5(9):1367-71. PubMed ID: 8872479
[TBL] [Abstract][Full Text] [Related]
4. A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations.
Uyguner ZO; Toksoy G; Altunoglu U; Ozgur H; Basaran S; Kayserili H
Eur J Med Genet; 2015; 58(6-7):358-63. PubMed ID: 26007620
[TBL] [Abstract][Full Text] [Related]
5. Moebius syndrome and hydrosyringomyelia: description of a new association.
Losito L; Gennaro L; Cacudi M; De Rinaldis M; Trabacca A
J Child Neurol; 2013 Jun; 28(6):801-4. PubMed ID: 22832772
[TBL] [Abstract][Full Text] [Related]
6. Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
MacKinnon S; Oystreck DT; Andrews C; Chan WM; Hunter DG; Engle EC
Ophthalmology; 2014 Jul; 121(7):1461-8. PubMed ID: 24612975
[TBL] [Abstract][Full Text] [Related]
7. Examining the genetics of congenital facial paralysis--a closer look at Moebius syndrome.
Kadakia S; Helman SN; Schwedhelm T; Saman M; Azizzadeh B
Oral Maxillofac Surg; 2015 Jun; 19(2):109-16. PubMed ID: 25663568
[TBL] [Abstract][Full Text] [Related]
8. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a
Patel RM; Liu D; Gonzaga-Jauregui C; Jhangiani S; Lu JT; Sutton VR; Fernbach SD; Azamian M; White L; Edmond JC; Paysse EA; Belmont JW; Muzny D; Lupski JR; Gibbs RA; Lewis RA; Lee BH; Lalani SR; Campeau PM
Cold Spring Harb Mol Case Stud; 2017 Mar; 3(2):a000984. PubMed ID: 28299356
[TBL] [Abstract][Full Text] [Related]
9. A report of paracentric inversion of chromosome 8 in Moebius syndrome.
Kersey JP; Vivian AJ; Reid E
Ophthalmic Genet; 2006 Mar; 27(1):29-31. PubMed ID: 16543199
[TBL] [Abstract][Full Text] [Related]
10. Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes.
Michielse CB; Bhat M; Brady A; Jafrid H; van den Hurk JA; Raashid Y; Brunner HG; van Bokhoven H; Padberg GW
Eur J Hum Genet; 2006 Dec; 14(12):1306-12. PubMed ID: 16912702
[TBL] [Abstract][Full Text] [Related]
11. A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family.
Verzijl HT; van den Helm B; Veldman B; Hamel BC; Kuyt LP; Padberg GW; Kremer H
Am J Hum Genet; 1999 Sep; 65(3):752-6. PubMed ID: 10441582
[TBL] [Abstract][Full Text] [Related]
12. Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.
Blair IP; Gibson RR; Bennett CL; Chance PF
Am J Med Genet; 2002 Jan; 107(3):190-6. PubMed ID: 11807898
[TBL] [Abstract][Full Text] [Related]
13. Cloning and chromosome assignment of the human CDX2 gene.
Drummond F; Putt W; Fox M; Edwards YH
Ann Hum Genet; 1997 Sep; 61(Pt 5):393-400. PubMed ID: 9459001
[TBL] [Abstract][Full Text] [Related]
14. Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene.
Wang CY; Huang YQ; Shi JD; Marron MP; Ruan QG; Hawkins-Lee B; Ochoa B; She JX
Am J Med Genet; 1999 Jun; 84(5):454-9. PubMed ID: 10360399
[TBL] [Abstract][Full Text] [Related]
15. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.
Vogel M; Velleuer E; Schmidt-Jiménez LF; Mayatepek E; Borkhardt A; Alawi M; Kutsche K; Kortüm F
Am J Med Genet A; 2016 Jul; 170(7):1813-9. PubMed ID: 27144914
[TBL] [Abstract][Full Text] [Related]
16. [Moebius syndrome. Clinical case report].
Palmer-Morales Y; Zárate-Márquez RE; Prince-Vélez R; González-Méndez R; Zamarripa-Sandoval TA; Verdugo-Salazar N; Torres-Félix VG; Salcido-Daniel R; Valdez-Hernández P; Morfín-Vela A
Rev Med Inst Mex Seguro Soc; 2013; 51(5):584-6. PubMed ID: 24144154
[TBL] [Abstract][Full Text] [Related]
17. Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients.
van der Zwaag B; Verzijl HT; Wichers KH; Beltran-Valero de Bernabe D; Brunner HG; van Bokhoven H; Padberg GW
Pediatr Neurol; 2004 Aug; 31(2):114-8. PubMed ID: 15301830
[TBL] [Abstract][Full Text] [Related]
18. A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].
Schröder JC; Läßig AK; Galetzka D; Peters A; Castle JC; Diederich S; Zechner U; Müller-Forell W; Keilmann A; Bartsch O
Behav Brain Funct; 2013 Feb; 9():7. PubMed ID: 23419067
[TBL] [Abstract][Full Text] [Related]
19. Linkage disequilibrium in the 13q12 region in Finnish late onset Alzheimer's disease patients.
Hiltunen M; Mannermaa A; Koivisto AM; Lehtovirta M; Helisalmi S; Ryynänen M; Riekkinen P; Soininen H
Eur J Hum Genet; 1999 Sep; 7(6):652-8. PubMed ID: 10482953
[TBL] [Abstract][Full Text] [Related]
20. Prosthodontic Management of a Patient with Moebius Syndrome: A Clinical Report.
Mahrous A; Thalji G
J Prosthodont; 2018 Mar; 27(3):299-305. PubMed ID: 29098745
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]