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Refinado por: Nome da Publicação: European Journal of Human Genetics remover
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1
Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development
Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development
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Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development

BHOJ, Elizabeth J ; RAMOS, Purita ; VANHOUTTEGHEM, Amandine ; DJIAN, Philippe ; ZINN, Andrew R ; BAKER, Linda A ; COST, Nicholas ; NORDENSKJÖLD, Agneta ; ELDER, Frederick F ; BLEYL, Steven B ; BOWLES, Neil E ; ARRINGTON, Cammon B ; DELHOMME, Brigitte

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.540-546 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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2
Androgen insensitivity syndrome mutations in exon 3 of AR gene in patients with partial and mild forms
Androgen insensitivity syndrome mutations in exon 3 of AR gene in patients with partial and mild forms
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Androgen insensitivity syndrome mutations in exon 3 of AR gene in patients with partial and mild forms

C. Vretos Ester Silveira Ramos; European Human Genetics Conference (2007 Nice)

European Journal of Human Genetics London v. 15, suppl. 1, p. 179, res. P0651, 2007

London 2007

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1617815 ) e outros locais(Acessar)

3
Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA
Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA
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Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA

Togneri, Fiona S ; Ward, Douglas G ; Foster, Joseph M ; Devall, Adam J ; Wojtowicz, Paula ; Alyas, Sofia ; Vasques, Fabiana Ramos ; Oumie, Assa ; James, Nicholas D ; Cheng, K K ; Zeegers, Maurice P ; Deshmukh, Nayneeta ; O'Sullivan, Brendan ; Taniere, Philippe ; Spink, Karen G ; McMullan, Dominic J ; Griffiths, Mike ; Bryan, Richard T

European journal of human genetics : EJHG, 2016-08, Vol.24 (8), p.1167-1174 [Periódico revisado por pares]

England: Nature Publishing Group

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4
NANOG expression in Ewing's sarcoma and desmoplastic small round cell tumor
NANOG expression in Ewing's sarcoma and desmoplastic small round cell tumor
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NANOG expression in Ewing's sarcoma and desmoplastic small round cell tumor

A. F. L. Rios Luiz Gonzaga Tone; Carlos Alberto Scridelli; R. P Queiroz; Ester Silveira Ramos; European Human Genetics Conference (2007 Nice)

European Journal of Human Genetics London v. 15, suppl. 1, p. 164, res. P0584, 2007

London 2007

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1617809 ) e outros locais(Acessar)

5
Case report patient with ring chromosome 4
Case report patient with ring chromosome 4
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Case report patient with ring chromosome 4

J. Huber Ester Silveira Ramos; D. G Melo; Lúcia Regina Martelli; European Human Genetics Conference (2007 Nice)

European Journal of Human Genetics London v. 15, suppl. 1, p. 122, res. P0397, 2007

London 2007

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1617794 ) e outros locais(Acessar)

6
Primary brain calcification: an international study reporting novel variants and associated phenotypes
Primary brain calcification: an international study reporting novel variants and associated phenotypes
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Primary brain calcification: an international study reporting novel variants and associated phenotypes

Ramos, Eliana Marisa ; Carecchio, Miryam ; Lemos, Roberta ; Ferreira, Joana ; Legati, Andrea ; Sears, Renee Louise ; Hsu, Sandy Chan ; Panteghini, Celeste ; Magistrelli, Luca ; Salsano, Ettore ; Esposito, Silvia ; Taroni, Franco ; Richard, Anne-Claire ; Tranchant, Christine ; Anheim, Mathieu ; Ayrignac, Xavier ; Goizet, Cyril ; Vidailhet, Marie ; Maltete, David ; Wallon, David ; Frebourg, Thierry ; Pimentel, Lylyan ; Geschwind, Daniel H ; Vanakker, Olivier ; Galasko, Douglas ; Fogel, Brent L ; Innes, A Micheil ; Ross, Alison ; Dobyns, William B ; Alcantara, Diana ; O'Driscoll, Mark ; Hannequin, Didier ; Campion, Dominique ; Oliveira, João R ; Garavaglia, Barbara ; Coppola, Giovanni ; Nicolas, Gaël

European journal of human genetics : EJHG, 2018-10, Vol.26 (10), p.1462-1477 [Periódico revisado por pares]

England: Nature Publishing Group

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7
UGT1A1 is a major locus influencing bilirubin levels in African Americans
UGT1A1 is a major locus influencing bilirubin levels in African Americans
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UGT1A1 is a major locus influencing bilirubin levels in African Americans

CHEN, Guanjie ; RAMOS, Edward ; BENTLEY, Amy R ; HUICHUN XU ; CHARLES, Bashira A ; CHRISTMAN, Michael F ; ROTIMI, Charles N ; ADEYEMO, Adebowale ; SHRINER, Daniel ; JIE ZHOU ; DOUMATEY, Ayo P ; HUANG, Hanxia ; ERDOS, Michael R ; GERRY, Norman P ; HERBERT, Alan

European journal of human genetics : EJHG, 2012-04, Vol.20 (4), p.463-468 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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8
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Ockeloen, Charlotte W ; Willemsen, Marjolein H ; de Munnik, Sonja ; van Bon, Bregje WM ; de Leeuw, Nicole ; Verrips, Aad ; Kant, Sarina G ; Jones, Elizabeth A ; Brunner, Han G ; van Loon, Rosa LE ; Smeets, Eric EJ ; van Haelst, Mieke M ; van Haaften, Gijs ; Nordgren, Ann ; Malmgren, Helena ; Grigelioniene, Giedre ; Vermeer, Sascha ; Louro, Pedro ; Ramos, Lina ; Maal, Thomas JJ ; van Heumen, Celeste C ; Yntema, Helger G ; Carels, Carine ; Kleefstra, Tjitske

European Journal of Human Genetics, 2015-09, Vol.23 (9), p.1176-1185 [Periódico revisado por pares]

Nature Publishing Group

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9
Gross genomic rearrangements involving deletions in the CFTR gene : characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
Gross genomic rearrangements involving deletions in the CFTR gene : characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
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Gross genomic rearrangements involving deletions in the CFTR gene : characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

FEREC, Claude ; CASALS, Teresa ; SHERIDAN, Molly ; PANTALEO, Sarah-Jane ; LOUMI, Ourida ; MESSAOUD, Taieb ; CUPPENS, Harry ; TORRICELLI, Francesca ; CUTTING, Garry R ; WILLIAMSON, Robert ; RAMOS, Maria Jesus Alonso ; PIGNATTI, Pier Franco ; CHUZHANOVA, Nadia ; RAGUENES, Odile ; COOPER, David N ; AUDREZET, Marie-Pierre ; CHEN, Jian-Min ; MACEK, Milan ; BIENVENU, Thierry ; HOLUBOVA, Andrea ; KING, Caitriona ; MCDEVITT, Trudi ; CASTELLANI, Carlo ; FARRELL, Philip M

European journal of human genetics : EJHG, 2006-05, Vol.14 (5), p.567-576 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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10
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
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Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Kievit, Anneke ; Tessadori, Federico ; Douben, Hannie ; Jordens, Ingrid ; Maurice, Madelon ; Hoogeboom, Jeannette ; Hennekam, Raoul ; Nampoothiri, Sheela ; Kayserili, Hülya ; Castori, Marco ; Whiteford, Margo ; Motter, Connie ; Melver, Catherine ; Cunningham, Michael ; Hing, Anne ; Kokitsu-Nakata, Nancy M ; Vendramini-Pittoli, Siulan ; Richieri-Costa, Antonio ; Baas, Annette F ; Breugem, Corstiaan C ; Duran, Karen ; Massink, Maarten ; Derksen, Patrick W B ; van IJcken, Wilfred F J ; van Unen, Leontine ; Santos-Simarro, Fernando ; Lapunzina, Pablo ; Gil-da Silva Lopes, Vera L ; Lustosa-Mendes, Elaine ; Krall, Max ; Slavotinek, Anne ; Martinez-Glez, Victor ; Bakkers, Jeroen ; van Gassen, Koen L I ; de Klein, Annelies ; van den Boogaard, Marie-José H ; van Haaften, Gijs

European journal of human genetics : EJHG, 2018-02, Vol.26 (2), p.210-219 [Periódico revisado por pares]

England: Nature Publishing Group

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