BOSMA ARHINIA MICROPHTHALMIA SYNDROME; BAMS

Literature (2)

Literature for OMIM 603457: BOSMA ARHINIA MICROPHTHALMIA SYNDROME; BAMS

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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development., Filali H,Oufadem M,Altmüller J,Gurzau AD,Varghese V,Williams D,Ratbi I,Elalaoui SC,Lévy N,Tunçbilek G,Chatdokmaiprai C,Javed A,Gordon CT,Xue S,Yigit G,Chen K,Rosin N,Yoshiura KI,Beck TJ,Magee AC,Dion C,Thiele H,Nürnberg P,Meschede D,Mühlbauer W,Okamoto N,Sigaudy S,Ahmed SF,Bonnard C,Kong MK,Fejjal N,Fikri M,Reigstad H,Bole-Feysot C,Nitschké P,Ragge N,Teo AS,Cunningham ML,Sefiani A,Kayserili H,Murphy JM,Hillmer AM,Wattanasirichaigoon D,Lyonnet S,Magdinier F,Blewitt ME,Amiel J,Wollnik B,Reversade B,McGowan R,Irving R, Nat Genet. February 1, 2017; 49(2):1546-1718.
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function., Gurzau AD,Chen K,Xue S,Dai W,Ly TTN,Reversade B,Blewitt ME,Murphy JM,Lucet IS, J Biol Chem. June 22, 2018; 293(25):1083-351X.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development., Filali H,Oufadem M,Altmüller J,Gurzau AD,Varghese V,Williams D,Ratbi I,Elalaoui SC,Lévy N,Tunçbilek G,Chatdokmaiprai C,Javed A,Gordon CT,Xue S,Yigit G,Chen K,Rosin N,Yoshiura KI,Beck TJ,Magee AC,Dion C,Thiele H,Nürnberg P,Meschede D,Mühlbauer W,Okamoto N,Sigaudy S,Ahmed SF,Bonnard C,Kong MK,Fejjal N,Fikri M,Reigstad H,Bole-Feysot C,Nitschké P,Ragge N,Teo AS,Cunningham ML,Sefiani A,Kayserili H,Murphy JM,Hillmer AM,Wattanasirichaigoon D,Lyonnet S,Magdinier F,Blewitt ME,Amiel J,Wollnik B,Reversade B,McGowan R,Irving R, Nat Genet. February 1, 2017; 49(2):1546-1718.

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function., Gurzau AD,Chen K,Xue S,Dai W,Ly TTN,Reversade B,Blewitt ME,Murphy JM,Lucet IS, J Biol Chem. June 22, 2018; 293(25):1083-351X.