224 related articles for article (PubMed ID: 16538226)
1. Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.
Robertson SP; Thompson S; Morgan T; Holder-Espinasse M; Martinot-Duquenoy V; Wilkie AO; Manouvrier-Hanu S
Eur J Hum Genet; 2006 May; 14(5):549-54. PubMed ID: 16538226
[TBL] [Abstract][Full Text] [Related]
2. Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.
Robertson SP
Eur J Hum Genet; 2007 Jan; 15(1):3-9. PubMed ID: 16926860
[TBL] [Abstract][Full Text] [Related]
3. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.
Clark AR; Sawyer GM; Robertson SP; Sutherland-Smith AJ
Hum Mol Genet; 2009 Dec; 18(24):4791-800. PubMed ID: 19773341
[TBL] [Abstract][Full Text] [Related]
4. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Robertson SP; Twigg SR; Sutherland-Smith AJ; Biancalana V; Gorlin RJ; Horn D; Kenwrick SJ; Kim CA; Morava E; Newbury-Ecob R; Orstavik KH; Quarrell OW; Schwartz CE; Shears DJ; Suri M; Kendrick-Jones J; Wilkie AO;
Nat Genet; 2003 Apr; 33(4):487-91. PubMed ID: 12612583
[TBL] [Abstract][Full Text] [Related]
5. Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.
Masurel-Paulet A; Haan E; Thompson EM; Goizet C; Thauvin-Robinet C; Tai A; Kennedy D; Smith G; Khong TY; Solé G; Guerineau E; Coupry I; Huet F; Robertson S; Faivre L
Eur J Med Genet; 2011; 54(1):25-8. PubMed ID: 20888935
[TBL] [Abstract][Full Text] [Related]
6. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Parrini E; Ramazzotti A; Dobyns WB; Mei D; Moro F; Veggiotti P; Marini C; Brilstra EH; Dalla Bernardina B; Goodwin L; Bodell A; Jones MC; Nangeroni M; Palmeri S; Said E; Sander JW; Striano P; Takahashi Y; Van Maldergem L; Leonardi G; Wright M; Walsh CA; Guerrini R
Brain; 2006 Jul; 129(Pt 7):1892-906. PubMed ID: 16684786
[TBL] [Abstract][Full Text] [Related]
7. Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.
Santos HH; Garcia PP; Pereira L; Leão LL; Aguiar RA; Lana AM; Carvalho MR; Aguiar MJ
Am J Med Genet A; 2010 Mar; 152A(3):726-31. PubMed ID: 20186808
[TBL] [Abstract][Full Text] [Related]
8. A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.
Hidalgo-Bravo A; Pompa-Mera EN; Kofman-Alfaro S; Gonzalez-Bonilla CR; Zenteno JC
Am J Med Genet A; 2005 Jul; 136(2):190-3. PubMed ID: 15940695
[TBL] [Abstract][Full Text] [Related]
9. A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.
Hehr U; Hehr A; Uyanik G; Phelan E; Winkler J; Reardon W
J Med Genet; 2006 Jun; 43(6):541-4. PubMed ID: 16299064
[TBL] [Abstract][Full Text] [Related]
10. Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.
Zenker M; Nährlich L; Sticht H; Reis A; Horn D
Am J Med Genet A; 2006 May; 140(10):1069-73. PubMed ID: 16596676
[TBL] [Abstract][Full Text] [Related]
11. Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.
Choi HJ; Lee BH; Cho HY; Moon KC; Ha IS; Nagata M; Choi Y; Cheong HI
Am J Kidney Dis; 2008 May; 51(5):834-8. PubMed ID: 18436095
[TBL] [Abstract][Full Text] [Related]
12. Fetal phenotypes in otopalatodigital spectrum disorders.
Naudion S; Moutton S; Coupry I; Sole G; Deforges J; Guerineau E; Hubert C; Deves S; Pilliod J; Rooryck C; Abel C; Le Breton F; Collardeau-Frachon S; Cordier MP; Delezoide AL; Goldenberg A; Loget P; Melki J; Odent S; Patrier S; Verloes A; Viot G; Blesson S; Bessières B; Lacombe D; Arveiler B; Goizet C; Fergelot P
Clin Genet; 2016 Mar; 89(3):371-7. PubMed ID: 26404489
[TBL] [Abstract][Full Text] [Related]
13. Germline mosaicism at the fragile X locus.
Prior TW; Papp AC; Snyder PJ; Sedra MS; Guida M; Enrile BG
Am J Med Genet; 1995 Jan; 55(3):384-6. PubMed ID: 7726241
[TBL] [Abstract][Full Text] [Related]
14. Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
Parrini E; Mei D; Pisanti MA; Catarzi S; Pucatti D; Bianchini C; Mascalchi M; Bertini E; Morrone A; Cavaliere ML; Guerrini R
J Med Genet; 2015 Jun; 52(6):405-12. PubMed ID: 25755106
[TBL] [Abstract][Full Text] [Related]
15. Germline mosaicism for a MECP2 mutation in a man with two Rett daughters.
Evans JC; Archer HL; Whatley SD; Clarke A
Clin Genet; 2006 Oct; 70(4):336-8. PubMed ID: 16965328
[TBL] [Abstract][Full Text] [Related]
16. Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
Robertson SP; Jenkins ZA; Morgan T; Adès L; Aftimos S; Boute O; Fiskerstrand T; Garcia-Miñaur S; Grix A; Green A; Der Kaloustian V; Lewkonia R; McInnes B; van Haelst MM; Mancini G; Illés T; Mortier G; Newbury-Ecob R; Nicholson L; Scott CI; Ochman K; Brozek I; Shears DJ; Superti-Furga A; Suri M; Whiteford M; Wilkie AO; Krakow D
Am J Med Genet A; 2006 Aug; 140(16):1726-36. PubMed ID: 16835913
[TBL] [Abstract][Full Text] [Related]
17. Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.
Mariño-Enríquez A; Lapunzina P; Robertson SP; Rodríguez JI
Am J Med Genet A; 2007 May; 143A(10):1120-5. PubMed ID: 17431908
[TBL] [Abstract][Full Text] [Related]
18. The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.
Kirk EP; Malaty-Brevaud V; Martini N; Lacoste C; Levy N; Maclean K; Davies L; Philip N; Badens C
Clin Genet; 2009 Mar; 75(3):301-3. PubMed ID: 19018795
[No Abstract] [Full Text] [Related]
19. A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.
Dobbs AK; Yang T; Farmer DM; Howard V; Conley ME
Clin Genet; 2007 Feb; 71(2):171-6. PubMed ID: 17250667
[TBL] [Abstract][Full Text] [Related]
20. Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.
Wimplinger I; Rauch A; Orth U; Schwarzer U; Trautmann U; Kutsche K
Eur J Med Genet; 2007; 50(6):421-31. PubMed ID: 17845869
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]