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Genotype-phenotype correlation

  • FOXP1-related intellectual disability syndrome: a recognisable entity
    Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, Nicola Ragge, Sixto García-Miñaúr, Pablo Lapunzina, Maria Palomares Bralo, Maria Ángeles Mori, Stéphanie Moortgat, Valérie Benoit, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy JL de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K Vaux, Nataliya DiDonato, Andrea K Hanson-Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael J Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalova, Marketa Havlovicova, Miroslava Hancarova, Magdalena Budisteanu, Annelies Dheedene, Björn Menten, Patrick A Dion, Damien Lederer, Bert Callewaert
    Journal of Medical Genetics Sep 2017, 54 (9) 613-623; DOI: 10.1136/jmedgenet-2017-104579
  • The clinical relevance of intragenic NRXN1 deletions
    Nele Cosemans, Laura Vandenhove, Annick Vogels, Koenraad Devriendt, Hilde Van Esch, Griet Van Buggenhout, Hilde Olivié, Thomy de Ravel, Els Ortibus, Eric Legius, Peter Aerssens, Jeroen Breckpot, Joris R. Vermeesch, Sanbing Shen, Jacqueline Fitzgerald, Louise Gallagher, Hilde Peeters
    Journal of Medical Genetics May 2020, 57 (5) 347-355; DOI: 10.1136/jmedgenet-2019-106448
  • Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation
    Ian M Frayling, Victor-Felix Mautner, Rick van Minkelen, Roope A Kallionpaa, Safiye Aktaş, Diana Baralle, Shay Ben-Shachar, Alison Callaway, Harriet Cox, Diana M Eccles, Salah Ferkal, Holly LaDuca, Conxi Lázaro, Mark T Rogers, Aaron J Stuenkel, Pia Summerour, Ali Varan, Yoon Sim Yap, Ouidad Zehou, Juha Peltonen, D Gareth Evans, Pierre Wolkenstein, Meena Upadhyaya
    Journal of Medical Genetics Apr 2019, 56 (4) 209-219; DOI: 10.1136/jmedgenet-2018-105599
  • Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria
    Marta K Danecka, Mathias Woidy, Johannes Zschocke, François Feillet, Ania C Muntau, Søren W Gersting
    Journal of Medical Genetics Mar 2015, 52 (3) 175-185; DOI: 10.1136/jmedgenet-2014-102621
  • Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients
    Adam Hexter, Adrian Jones, Harry Joe, Laura Heap, Miriam J Smith, Andrew J Wallace, Dorothy Halliday, Allyson Parry, Amy Taylor, Lucy Raymond, Adam Shaw, Shazia Afridi, Rupert Obholzer, Patrick Axon, Andrew T King, The English Specialist NF2 Research Group, Jan M Friedman, D Gareth R Evans
    Journal of Medical Genetics Oct 2015, 52 (10) 699-705; DOI: 10.1136/jmedgenet-2015-103290