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Refinado por: Nome da Publicação: European Journal Of Human Genetics : Ejhg remover assunto: Mutation remover Female remover
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1
Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers
Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers
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Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers

Jansen, Anne Ml ; van Wezel, Tom ; van den Akker, Brendy Ewm ; Ventayol Garcia, Marina ; Ruano, Dina ; Tops, Carli Mj ; Wagner, Anja ; Letteboer, Tom Gw ; Gómez-García, Encarna B ; Devilee, Peter ; Wijnen, Juul T ; Hes, Frederik J ; Morreau, Hans

European journal of human genetics : EJHG, 2016-07, Vol.24 (7), p.1089-1092 [Periódico revisado por pares]

England: Nature Publishing Group

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2
SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome
SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome
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SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome

Yamamoto, Gou ; Miyabe, Izumi ; Tanaka, Keisuke ; Kakuta, Miho ; Watanabe, Motoko ; Kawakami, Satoru ; Ishida, Hideyuki ; Akagi, Kiwamu

European journal of human genetics : EJHG, 2021-04, Vol.29 (4), p.680-686 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Biallelic MUTYH mutations can mimic Lynch syndrome
Biallelic MUTYH mutations can mimic Lynch syndrome
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Biallelic MUTYH mutations can mimic Lynch syndrome

Morak, Monika ; Heidenreich, Barbara ; Keller, Gisela ; Hampel, Heather ; Laner, Andreas ; de la Chapelle, Albert ; Holinski-Feder, Elke

European journal of human genetics : EJHG, 2014-11, Vol.22 (11), p.1334-1337 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Uptake of genetic testing by the children of Lynch syndrome variant carriers across three generations
Uptake of genetic testing by the children of Lynch syndrome variant carriers across three generations
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Uptake of genetic testing by the children of Lynch syndrome variant carriers across three generations

Seppälä, Toni T ; Pylvänäinen, Kirsi ; Mecklin, Jukka-Pekka

European journal of human genetics : EJHG, 2017-11, Vol.25 (11), p.1237-1245 [Periódico revisado por pares]

England: Nature Publishing Group

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5
MLH1 methylation screening is effective in identifying epimutation carriers
MLH1 methylation screening is effective in identifying epimutation carriers
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MLH1 methylation screening is effective in identifying epimutation carriers

PINEDA, Marta ; MUR, Pilar ; BRUNET, Joan ; NAVARRO, Matilde ; BLANCO, Ignacio ; CAPELLA, Gabriel ; INIESTA, Maria Dolores ; BORRAS, Ester ; CAMPOS, Olga ; VARGAS, Gardenia ; IGLESIAS, Silvia ; FERNANDEZ, Anna ; GRUBER, Stephen B ; LAZARO, Conxi

European journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1256-1264 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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6
The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype
The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype
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The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype

Kwok, Chau-To ; Vogelaar, Ingrid P ; van Zelst-Stams, Wendy A ; Mensenkamp, Arjen R ; Ligtenberg, Marjolijn J ; Rapkins, Robert W ; Ward, Robyn L ; Chun, Nicolette ; Ford, James M ; Ladabaum, Uri ; McKinnon, Wendy C ; Greenblatt, Marc S ; Hitchins, Megan P

European journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.617-624 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome
Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome
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Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome

Bellido, Fernando ; Guinó, Elisabet ; Jagmohan-Changur, Shantie ; Seguí, Nuria ; Pineda, Marta ; Navarro, Matilde ; Lázaro, Conxi ; Blanco, Ignacio ; Vasen, Hans F A ; Moreno, Victor ; Capellá, Gabriel ; Wijnen, Juul T ; Valle, Laura

European journal of human genetics : EJHG, 2013-05, Vol.21 (5), p.511-516 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012
Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012
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Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012

Rahner, Nils ; Steinke, Verena ; Schlegelberger, Brigitte ; Eisinger, Francois ; Hutter, Pierre ; Olschwang, Sylviane

European journal of human genetics : EJHG, 2013-01, Vol.21 (1), p.118-118 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC
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Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC

MORAK, Monika ; SCHACKERT, Hans Konrad ; KELLER, Gisela ; KERKER, Brigitte ; LEITNER, Gertraud ; HOLINSKI-FEDER, Elke ; RAHNER, Nils ; BETZ, Beate ; EBERT, Matthias ; WALLDORF, Constanze ; ROYER-POKORA, Brigitte ; SCHULMANN, Karsten ; VON KNEBEL-DOEBERITZ, Magnus ; DIETMAIER, Wolfgang

European journal of human genetics : EJHG, 2008-07, Vol.16 (7), p.804-811 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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10
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1
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Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1

KRÜGER, Stefan ; KINZEL, Miriam ; KÖLBLE, Konrad ; BÜTTNER, Reinhard ; SCHACKERT, Hans K ; WALLDORF, Constanze ; GOTTSCHLING, Sven ; BIER, Andrea ; TINSCHERT, Sigrid ; VON STACKELBERG, Arend ; HENN, Wolfram ; GÖRGENS, Heike ; BOUE, Stephanie

European journal of human genetics : EJHG, 2008-01, Vol.16 (1), p.62-72 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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