Results 1 -
10
of
24
for
Santos syndrome
- ... on PubMed Martinez Planello A, Sotillo M, Rodriguez-Santos F. Cognitive profile of a child with SOS1 mutation in Noonan syndrome. Neurologia (Engl Ed). 2018 Mar;33(2):137- ...
- ... Schneider NB, Pastor T, Paula AE, Achatz MI, Santos ARD, Vianna FSL, Rosset C, Pinheiro M, Ashton-Prolla P, Moreira MAM, Palmero EI; Brazilian Lynch Syndrome Study Group. Germline MLH1, MSH2 and MSH6 variants ...
- ... Schneider NB, Pastor T, Paula AE, Achatz MI, Santos ARD, Vianna FSL, Rosset C, Pinheiro M, Ashton-Prolla P, Moreira MAM, Palmero EI; Brazilian Lynch Syndrome Study Group. Germline MLH1, MSH2 and MSH6 variants ...
- ... Valdecantos A, Brugada J, Oliva A, Burashnikov E, Santos-de-Soto J, Grueso-Montero J, Diaz-Enfante E, Brugada P, Sachse F, Sanguinetti MC, Brugada R. De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero. Cardiovasc Res. 2005 Dec 1;68( ...
- ... MD, Sousa AB, Martinez de Villarreal L, dos Santos HG, Garg A. PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet. 2010 Dec 10;87( ...
- ... Menne TF, Gonzalez Fernandez A, Simpson P, D'Santos CS, Arends MJ, Donadieu J, Bellanne-Chantelot C, Costanzo M, Boone C, McKenzie AN, Freund SM, Warren AJ. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev. 2011 May 1;25(9):917- ...
- ... Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL. A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and ...
- ... Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, ... in congenital myasthenic syndromes. Brain. 2007 Jun;130(Pt 6):1497-506. ...
- ... Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, Garcia-Minaur S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Hum Genet. 2016 Feb; ...
- ... McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE. Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome. N Engl J Med. 2007 Feb 22;356( ...