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Personal journeys to and in human genetics and dysmorphology.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63514
By:
- Schwartz, Charles E.;
- Aylsworth, Arthur S.;
- Allanson, Judith;
- Battaglia, Agatino;
- Carey, John C.;
- Curry, Cynthia J.;
- Davies, Kay E.;
- Eichler, Evan E.;
- Graham, John M.;
- Hall, Bryan;
- Hall, Judith G.;
- Holmes, Lewis B.;
- Hoyme, H. Eugene;
- Hunter, Alasdair;
- Innis, Jeffrey;
- Johnson, John;
- Keppler‐Noreuil, Kim M.;
- Leroy, Jules G.;
- Moore, Cynthia;
- Nelson, David L.
Publication type:
Article
Long-term observation of a patient with dominant omodysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1234, doi. 10.1002/ajmg.a.36408
By:
- Gordon, Barbara L.;
- Champaigne, Neena L.;
- Rogers, R. Curtis;
- Frias, Jaime L.;
- Leroy, Jules G.
Publication type:
Article
Erratum: Mutations in different components of FGF signaling in LADD syndrome.
Published in:
2006
By:
- Rohmann, Edyta;
- Brunner, Han G;
- Kayserili, Hülya;
- Uyguner, Oya;
- Nürnberg, Gudrun;
- Lew, Erin D.;
- Dobbie, Angus;
- Eswarakumar, Veraragavan P.;
- Uzumcu, Abdullah;
- Ulubil-Emeroglu, Melike;
- Leroy, Jules G.;
- Yun Li;
- Becker, Christian;
- Lehnerdt, Kai;
- Cremers, Cor W. R. J.;
- Yüksel-Apak, Memnune;
- Nürnberg, Peter;
- Kubisch, Christian;
- Schlessinger, Joseph;
- van Bokhoven, Hans
Publication type:
Correction Notice
Mutations in different components of FGF signaling in LADD syndrome.
Published in:
Nature Genetics, 2006, v. 38, n. 4, p. 414, doi. 10.1038/ng1757
By:
- Rohmann, Edyta;
- Brunner, Han G.;
- Kayserili, Hülya;
- Uyguner, Oya;
- Nürnberg, Gudrun;
- Lew, Erin D.;
- Dobbie, Angus;
- Eswarakumar, Veraragavan P.;
- Uzumcu, Abdullah;
- Ulubil-Emeroglu, Melike;
- Leroy, Jules G.;
- Yun Li;
- Becker, Christian;
- Lehnerdt, Kai;
- Cremers, Cor W. R. J.;
- Yüksel-Apak, Memnune;
- Nürnberg, Peter;
- Kubisch, Christian;
- Schlessinger, Joseph;
- van Bokhoven, Hans
Publication type:
Article
Molecular cytogenetic analysis of a complex t(10;22;11) translocation in ewing's sarcoma.
Published in:
Genes, Chromosomes & Cancer, 1992, v. 4, n. 2, p. 188, doi. 10.1002/gcc.2870040214
By:
- Speleman, Frank;
- Roy, Nadine Van;
- Leroy, Jules G.;
- Dierick, Anne Marie;
- Uyttendaele, Dirk;
- Wiegant, Joop
Publication type:
Article
Is t(6;20)(p21;q13) a characteristic chromosome change in endometrial polyps?
Published in:
Genes, Chromosomes & Cancer, 1991, v. 3, n. 4, p. 318, doi. 10.1002/gcc.2870030412
By:
- Speleman, Frank;
- Cin, Paola Dal;
- Van Roy, Nadine;
- Van Marck, Eric;
- Buytaert, Philip;
- Van Den Berghe, Herman;
- Leroy, Jules G.
Publication type:
Article
A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 5, p. 594, doi. 10.1038/ejhg.2013.207
By:
- Leroy, Jules G;
- Sillence, David;
- Wood, Tim;
- Barnes, Jarrod;
- Lebel, Robert Roger;
- Friez, Michael J;
- Stevenson, Roger E;
- Steet, Richard;
- Cathey, Sara S
Publication type:
Article
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 8, p. 872, doi. 10.1038/ejhg.2010.23
By:
- Hoornaert, Kristien P.;
- Vereecke, Inge;
- Dewinter, Chantal;
- Rosenberg, Thomas;
- Beemer, Frits A.;
- Leroy, Jules G.;
- Bendix, Laila;
- Björck, Erik;
- Bonduelle, Maryse;
- Boute, Odile;
- Cormier-Daire, Valerie;
- De Die-Smulders, Christine;
- Dieux-Coeslier, Anne;
- Dollfus, Hélène;
- Elting, Mariet;
- Green, Andrew;
- Guerci, Veronica I.;
- Hennekam, Raoul C. M.;
- Hilhorts-Hofstee, Yvonne;
- Holder, Muriel
Publication type:
Article
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
Published in:
2010
By:
- Hoornaert, Kristien P;
- Vereecke, Inge;
- Dewinter, Chantal;
- Rosenberg, Thomas;
- Beemer, Frits A;
- Leroy, Jules G;
- Bendix, Laila;
- Björck, Erik;
- Bonduelle, Maryse;
- Boute, Odile;
- 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
Publication type:
Correction Notice
Czech dysplasia metatarsal type: another type II collagen disorder.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1269, doi. 10.1038/sj.ejhg.5201913
By:
- Hoornaert, Kristien P.;
- Marik, Ivo;
- Kozlowski, Kazimierz;
- Cole, Trevor;
- Le Merrer, Martine;
- Leroy, Jules G.;
- Coucke, Paul J.;
- Sillence, David;
- Mortier, Geert R.
Publication type:
Article
Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 1, p. 52, doi. 10.1038/sj.ejhg.5201281
By:
- Vermeulen, Stefan J.;
- Speleman, Frank;
- Vanransbeeck, Leen;
- Verspeet, Jasmien;
- Menten, Björn;
- Verschraegen-Spae, Marie-Rose;
- de Wilde, Philippe;
- Messiaen, Ludwine;
- Michaelis, Ron C.;
- Leroy, Jules G.
Publication type:
Article
Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype.
Published in:
Acta Neuropathologica, 2007, v. 114, n. 4, p. 387, doi. 10.1007/s00401-007-0248-z
By:
- Leroy, Jules G.;
- Lyon, Gilles;
- Fallet, Catherine;
- Amiel, Jeanne;
- De Praeter, Claudine;
- Van Den Broecke, Caroline;
- Vanhaesebrouck, Piet
Publication type:
Article
Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.
Published in:
2018
By:
- Warren, Hannah E.;
- Louie, Raymond J.;
- Friez, Michael J.;
- Frías, Jaime L.;
- Leroy, Jules G.;
- Spranger, Jürgen W.;
- Skinner, Steven A.;
- Champaigne, Neena L.
Publication type:
Case Study
Pontocerebellar Hypoplasia: Review of Classification and Genetics, and Exclusion of Several Genes Known to Be Important for Cerebellar Development.
Published in:
Journal of Child Neurology, 2011, v. 26, n. 3, p. 288, doi. 10.1177/0883073810380047
By:
- Maricich, Stephen M.;
- Aqeeb, Kaashif A.;
- Moayedi, Yalda;
- Mathes, Erin L.;
- Patel, Millan S.;
- Chitayat, David;
- Lyon, Gilles;
- Leroy, Jules G.;
- Zoghbi, Huda Y.
Publication type:
Article
Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 1, p. 91, doi. 10.1093/hmg/6.1.91
By:
- Meyer, Jobst;
- Südbeck, Peter;
- Held, Marika;
- Wagner, Thomas;
- Schmitz, M. Lienhard;
- Dagna Bricarelli, Franca;
- Eggermont, Ephrem;
- Friedrich, Ursula;
- Haas, Oskar A.;
- Kobelt, Albrecht;
- Leroy, Jules G.;
- Van Maldergem, Lionel;
- Michel, Erik;
- Mitulla, Beate;
- Pfeiffer, Rudolf A.;
- Schinzel, Albert;
- Schmidt, Heinrich;
- Scherer, Gerd
Publication type:
Article
Detection of subtle reciprocal translocations by fluorescence in situ hybridization.
Published in:
Clinical Genetics, 1992, v. 41, n. 4, p. 169, doi. 10.1111/j.1399-0004.1992.tb03657.x
By:
- Speleman, Frank;
- Roy, Nadine;
- Wlegant, Joop;
- Verschraegen-Spae, Marie Rose;
- Benoit, Yves;
- Govaert, Paul;
- Goossens, Linde;
- Leroy, Jules G.
Publication type:
Article

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