252 related articles for article (PubMed ID: 31243061)
1. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Lemmers RJLF; van der Stoep N; Vliet PJV; Moore SA; San Leon Granado D; Johnson K; Topf A; Straub V; Evangelista T; Mozaffar T; Kimonis V; Shaw ND; Selvatici R; Ferlini A; Voermans N; van Engelen B; Sacconi S; Tawil R; Lamers M; van der Maarel SM
J Med Genet; 2019 Oct; 56(10):693-700. PubMed ID: 31243061
[TBL] [Abstract][Full Text] [Related]
2. FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.
Gurzau AD; Chen K; Xue S; Dai W; Lucet IS; Ly TTN; Reversade B; Blewitt ME; Murphy JM
J Biol Chem; 2018 Jun; 293(25):9841-9853. PubMed ID: 29748383
[TBL] [Abstract][Full Text] [Related]
3. FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.
Mul K; Lemmers RJLF; Kriek M; van der Vliet PJ; van den Boogaard ML; Badrising UA; Graham JM; Lin AE; Brand H; Moore SA; Johnson K; Evangelista T; Töpf A; Straub V; Kapetanovic García S; Sacconi S; Tawil R; Tapscott SJ; Voermans NC; van Engelen BGM; Horlings CGC; Shaw ND; van der Maarel SM
Neurology; 2018 Aug; 91(6):e562-e570. PubMed ID: 29980640
[TBL] [Abstract][Full Text] [Related]
4. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Gordon CT; Xue S; Yigit G; Filali H; Chen K; Rosin N; Yoshiura KI; Oufadem M; Beck TJ; McGowan R; Magee AC; Altmüller J; Dion C; Thiele H; Gurzau AD; Nürnberg P; Meschede D; Mühlbauer W; Okamoto N; Varghese V; Irving R; Sigaudy S; Williams D; Ahmed SF; Bonnard C; Kong MK; Ratbi I; Fejjal N; Fikri M; Elalaoui SC; Reigstad H; Bole-Feysot C; Nitschké P; Ragge N; Lévy N; Tunçbilek G; Teo AS; Cunningham ML; Sefiani A; Kayserili H; Murphy JM; Chatdokmaiprai C; Hillmer AM; Wattanasirichaigoon D; Lyonnet S; Magdinier F; Javed A; Blewitt ME; Amiel J; Wollnik B; Reversade B
Nat Genet; 2017 Feb; 49(2):249-255. PubMed ID: 28067911
[TBL] [Abstract][Full Text] [Related]
5. The Epigenetic Regulator SMCHD1 in Development and Disease.
Jansz N; Chen K; Murphy JM; Blewitt ME
Trends Genet; 2017 Apr; 33(4):233-243. PubMed ID: 28222895
[TBL] [Abstract][Full Text] [Related]
6. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Shaw ND; Brand H; Kupchinsky ZA; Bengani H; Plummer L; Jones TI; Erdin S; Williamson KA; Rainger J; Stortchevoi A; Samocha K; Currall BB; Dunican DS; Collins RL; Willer JR; Lek A; Lek M; Nassan M; Pereira S; Kammin T; Lucente D; Silva A; Seabra CM; Chiang C; An Y; Ansari M; Rainger JK; Joss S; Smith JC; Lippincott MF; Singh SS; Patel N; Jing JW; Law JR; Ferraro N; Verloes A; Rauch A; Steindl K; Zweier M; Scheer I; Sato D; Okamoto N; Jacobsen C; Tryggestad J; Chernausek S; Schimmenti LA; Brasseur B; Cesaretti C; García-Ortiz JE; Buitrago TP; Silva OP; Hoffman JD; Mühlbauer W; Ruprecht KW; Loeys BL; Shino M; Kaindl AM; Cho CH; Morton CC; Meehan RR; van Heyningen V; Liao EC; Balasubramanian R; Hall JE; Seminara SB; Macarthur D; Moore SA; Yoshiura KI; Gusella JF; Marsh JA; Graham JM; Lin AE; Katsanis N; Jones PL; Crowley WF; Davis EE; FitzPatrick DR; Talkowski ME
Nat Genet; 2017 Feb; 49(2):238-248. PubMed ID: 28067909
[TBL] [Abstract][Full Text] [Related]
7. SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Dion C; Roche S; Laberthonnière C; Broucqsault N; Mariot V; Xue S; Gurzau AD; Nowak A; Gordon CT; Gaillard MC; El-Yazidi C; Thomas M; Schlupp-Robaglia A; Missirian C; Malan V; Ratbi L; Sefiani A; Wollnik B; Binetruy B; Salort Campana E; Attarian S; Bernard R; Nguyen K; Amiel J; Dumonceaux J; Murphy JM; Déjardin J; Blewitt ME; Reversade B; Robin JD; Magdinier F
Nucleic Acids Res; 2019 Apr; 47(6):2822-2839. PubMed ID: 30698748
[TBL] [Abstract][Full Text] [Related]
8. Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans.
Wang CY; Brand H; Shaw ND; Talkowski ME; Lee JT
Genetics; 2019 Oct; 213(2):685-703. PubMed ID: 31420322
[TBL] [Abstract][Full Text] [Related]
9. Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
Larsen M; Rost S; El Hajj N; Ferbert A; Deschauer M; Walter MC; Schoser B; Tacik P; Kress W; Müller CR
Eur J Hum Genet; 2015 Jun; 23(6):808-16. PubMed ID: 25370034
[TBL] [Abstract][Full Text] [Related]
10. Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With
Mohassel P; Chang N; Inoue K; Delaney A; Hu Y; Donkervoort S; Saade D; Billioux BJ; Meader B; Volochayev R; Konersman CG; Kaindl AM; Cho CH; Russell B; Rodriguez A; Foster KW; Foley AR; Moore SA; Jones PL; Bonnemann CG; Jones T; Shaw ND
Neurology; 2022 Mar; 98(13):e1384-e1396. PubMed ID: 35121673
[TBL] [Abstract][Full Text] [Related]
11. Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.
Winston J; Duerden L; Mort M; Frayling IM; Rogers MT; Upadhyaya M
Eur J Hum Genet; 2015 Jan; 23(1):67-71. PubMed ID: 24755953
[TBL] [Abstract][Full Text] [Related]
12. Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.
van den Boogaard ML; Lemmers RJ; Camaño P; van der Vliet PJ; Voermans N; van Engelen BG; Lopez de Munain A; Tapscott SJ; van der Stoep N; Tawil R; van der Maarel SM
Eur J Hum Genet; 2016 Jan; 24(1):78-85. PubMed ID: 25782668
[TBL] [Abstract][Full Text] [Related]
13. Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report.
Yang JL; Gu H; Yuan ZZ; Xie XH; Yang YF; Tan ZP
BMC Med Genomics; 2024 May; 17(1):136. PubMed ID: 38773541
[TBL] [Abstract][Full Text] [Related]
14. Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations.
Hamanaka K; Goto K; Arai M; Nagao K; Obuse C; Noguchi S; Hayashi YK; Mitsuhashi S; Nishino I
Neuromuscul Disord; 2016; 26(4-5):300-8. PubMed ID: 27061275
[TBL] [Abstract][Full Text] [Related]
15. Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report.
Atencia Goñi J; Orera Clemente M; Del Valle Diéguez MJ; González Fernández L; González Albarrán O
Endocrinol Diabetes Nutr (Engl Ed); 2024 Mar; 71(3):138-143. PubMed ID: 38555111
[TBL] [Abstract][Full Text] [Related]
16. In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Laberthonnière C; Delourme M; Chevalier R; Dion C; Ganne B; Hirst D; Caron L; Perrin P; Adélaïde J; Chaffanet M; Xue S; Nguyen K; Reversade B; Déjardin J; Baudot A; Robin JD; Magdinier F
Nucleic Acids Res; 2023 Aug; 51(14):7269-7287. PubMed ID: 37334829
[TBL] [Abstract][Full Text] [Related]
17. Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552
Ohta Y; Tadokoro K; Sasaki R; Takahashi Y; Sato K; Takemoto M; Hishikawa N; Shang J; Yamashita T; Takehisa Y; Nishino I; Abe K
J Clin Neurosci; 2018 Dec; 58():215-217. PubMed ID: 30327220
[TBL] [Abstract][Full Text] [Related]
18. The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
Sacconi S; Lemmers RJ; Balog J; van der Vliet PJ; Lahaut P; van Nieuwenhuizen MP; Straasheijm KR; Debipersad RD; Vos-Versteeg M; Salviati L; Casarin A; Pegoraro E; Tawil R; Bakker E; Tapscott SJ; Desnuelle C; van der Maarel SM
Am J Hum Genet; 2013 Oct; 93(4):744-51. PubMed ID: 24075187
[TBL] [Abstract][Full Text] [Related]
19. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Lemmers RJ; Tawil R; Petek LM; Balog J; Block GJ; Santen GW; Amell AM; van der Vliet PJ; Almomani R; Straasheijm KR; Krom YD; Klooster R; Sun Y; den Dunnen JT; Helmer Q; Donlin-Smith CM; Padberg GW; van Engelen BG; de Greef JC; Aartsma-Rus AM; Frants RR; de Visser M; Desnuelle C; Sacconi S; Filippova GN; Bakker B; Bamshad MJ; Tapscott SJ; Miller DG; van der Maarel SM
Nat Genet; 2012 Dec; 44(12):1370-4. PubMed ID: 23143600
[TBL] [Abstract][Full Text] [Related]
20. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
Mitsuhashi S; Boyden SE; Estrella EA; Jones TI; Rahimov F; Yu TW; Darras BT; Amato AA; Folkerth RD; Jones PL; Kunkel LM; Kang PB
Neuromuscul Disord; 2013 Dec; 23(12):975-80. PubMed ID: 24128691
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]