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Refinado por: Nome da Publicação: European Journal Of Human Genetics : Ejhg remover assunto: Fundamental And Applied Biological Sciences. Psychology remover
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1
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2 H19-imprinting control region, ICR1
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2 H19-imprinting control region, ICR1
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Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2 H19-imprinting control region, ICR1

POOLE, Rebecca L ; LEITH, Donald J ; DOCHERTY, Louise E ; SHMELA, Mansur E ; GICQUEL, Christine ; SPLITT, Miranda ; KAREN TEMPLE, I ; MACKAY, Deborah Jg

European journal of human genetics : EJHG, 2012-02, Vol.20 (2), p.240-243 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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2
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

BLIEK, Jet ; VERDE, Gaetano ; FISCHETTO, Rita ; LALATTA, Faustina ; GIORDANO, Lucio ; FERRARI, Paola ; CUBELLIS, Maria Vittoria ; LARIZZA, Lidia ; TEMPLE, I. Karen ; MANNENS, Marcel M. A. M ; MACKAY, Deborah J. G ; RICCIO, Andrea ; CALLAWAY, Jonathan ; MAAS, Saskia M ; DE CRESCENZO, Agostina ; SPARAGO, Angela ; CERRATO, Flavia ; RUSSO, Silvia ; FERRAIUOLO, Serena ; MICHELA RINALDI, Maria

European journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.611-619 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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3
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

HOORNAERT, Kristien P ; VEREECKE, Inge ; CORMIER-DAIRE, Valerie ; DE DIE-SMULDERS, Christine ; DIEUX-COESLIER, Anne ; DOLLFUS, Hélène ; ELTING, Mariet ; GREEN, Andrew ; GUERCI, Veronica I ; HENNEKAM, Raoul Cm ; HILHORTS-HOFSTEE, Yvonne ; HOLDER, Muriel ; DEWINTER, Chantal ; HOYNG, Carel ; JONES, Kristi J ; JOSIFOVA, Dragana ; KAITILA, Ilkka ; KJAERGAARD, Suzanne ; KROES, Yolande H ; LAGERSTEDT, Kristina ; LEES, Melissa ; LEMERRER, Martine ; MAGNANI, Cinzia ; ROSENBERG, Thomas ; MARCELIS, Carlo ; MARTORELL, Loreto ; MATHIEU, Michèle ; MCENTAGART, Meriel ; MENDICINO, Angela ; MORTON, Jenny ; ORAZIO, Gabrielli ; PAQUIS, Véronique ; REISH, Orit ; SIMOLA, Kalle Oj ; BEEMER, Frits A ; SMITHSON, Sarah F ; TEMPLE, Karen I ; VAN AKEN, Elisabeth ; VAN BEVER, Yolande ; VAN DEN ENDE, Jenneke ; VAN HAGEN, Johanna M ; ZELANTE, Leopoldo ; ZORDANIA, Riina ; DE PAEPE, Anne ; LEROY, Bart P ; LEROY, Jules G ; DE BUYZERE, Marc ; COUCKE, Paul J ; MORTIER, Geert R ; BENDIX, Laila ; BJÖRCK, Erik ; BONDUELLE, Maryse ; BOUTE, Odile

European journal of human genetics : EJHG, 2010-08, Vol.18 (8), p.872-880 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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4
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
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Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

TURNER, Claire Louise Susan ; MACKAY, Deborah M ; MEHTA, Sarju G ; MANSOUR, Sahar ; WAKELING, Emma L ; MATHEW, Verghese ; MADDEN, Jackie ; DAVIES, Justin H ; KAREN TEMPLE, I ; CALLAWAY, Jonathan La ; DOCHERTY, Louise E ; POOLE, Rebecca L ; BULLMAN, Hilary ; LEVER, Margaret ; CASTLE, Bruce M ; KIVUVA, Emma C ; TURNPENNY, Peter D

European journal of human genetics : EJHG, 2010-06, Vol.18 (6), p.648-655 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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5
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

BANKA, Siddharth ; VEERAMACHANENI, Ratna ; METCALFE, Kay ; CHANDLER, Kate ; MAGEE, Alex ; STEWART, Fiona ; MCCONNELL, Vivienne Pm ; DONNELLY, Deirdre E ; BERLAND, Siren ; HOUGE, Gunnar ; MORTON, Jenny E ; OLEY, Christine ; REARDON, William ; REVENCU, Nicole ; PARK, Soo-Mi ; DAVIES, Sally J ; FRY, Andrew E ; ANN LYNCH, Sally ; GILL, Harinder ; SCHWEIGER, Susann ; LAM, Wayne Wk ; TOLMIE, John ; MOHAMMED, Shehla N ; HOWARD, Emma ; HOBSON, Emma ; SMITH, Audrey ; BLYTH, Moira ; BENNETT, Christopher ; VASUDEVAN, Pradeep C ; GARCIA-MINAUR, Sixto ; HENDERSON, Alex ; GOODSHIP, Judith ; WRIGHT, Michael J ; FISHER, Richard ; BUNSTONE, Sancha ; GIBBONS, Richard ; PRICE, Susan M ; DE SILVA, Deepthi C ; KAREN TEMPLE, I ; COLLINS, Amanda L ; LACHLAN, Katherine ; ELMSLIE, Frances ; MCENTAGART, Meriel ; CASTLE, Bruce ; CLAYTON-SMITH, Jill ; RAGGE, Nicola ; BLACK, Graeme C ; DONNAI, Dian ; PARKER, Michael J ; CROW, Yanick J ; KERR, Bronwyn ; KINGSTON, Helen

European journal of human genetics : EJHG, 2012-04, Vol.20 (4), p.381-388 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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6
An atypical case of hypomethylation at multiple imprinted loci
An atypical case of hypomethylation at multiple imprinted loci
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An atypical case of hypomethylation at multiple imprinted loci

BAPLE, Emma L ; POOLE, Rebecca L ; MANSOUR, Sahar ; WILLOUGHBY, Catherine ; TEMPLE, I. Karen ; DOCHERTY, Louise E ; TAYLOR, Rohan ; MACKAY, Deborah Jg

European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.360-362 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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7
Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings
Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings
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Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

BOONEN, Susanne E ; PÖRKSEN, Sven ; MACKAY, Deborah J. G ; OESTERGAARD, Elsebet ; OLSEN, Birthe ; BRONDUM-NIELSEN, Karen ; TEMPLE, I. Karen ; HAHNEMANN, Johanne M. D

European journal of human genetics : EJHG, 2008-04, Vol.16 (4), p.453-461 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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8
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
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Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

DE MUNNIK, Sonja A ; BICKNELL, Louise S ; HAGEN, Johanna M.van ; HENNEKAM, Raoul C ; JANSWEIJER, Maaike Ce ; JOHNSON, Diana ; KANT, Sarina G ; OPITZ, John M ; RADHA RAMADEVI, A ; REARDON, Willie ; ROSS, Alison ; SARDA, Pierre ; AFTIMOS, Salim ; SCHRANDER-STUMPEL, Constance Trm ; SCHOOTS, Jeroen ; KAREN TEMPLE, I ; TERHAL, Paulien A ; TOUTAIN, Annick ; WISE, Carol A ; WRIGHT, Michael ; SKIDMORE, David L ; ESAMUELS, Mark ; HHOEFSLOOT, Lies ; AL-AAMA, Jumana Y ; VAMKNOERS, Nine ; BRUNNER, Han G ; JACKSON, Andrew P ; BONGERS, Ernie Mhf ; BEVER, Yolande Van ; BOBER, Michael B ; CLAYTON-SMITH, Jill ; EDREES, Alaa Y ; FEINGOLD, Murray ; FRYER, Alan

European journal of human genetics : EJHG, 2012-06, Vol.20 (6), p.598-606 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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