Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome
Kenwrick, S, Woffendin, H, Jakins, T, Shuttleworth, S G, Mayer, E, Greenhalgh, L, Whittaker, J, Rugolotto, S, Bardaro, T, Esposito, T, D'Urso, M, Soli, F, Turco, A, Smahi, A, Hamel-Teillac, D, Lyonnet, S, Bonnefont, J P, Munnich, A, Aradhya, S, Kashork, C D, Shaffer, L G, Nelson, D L, Levy, M, Lewis, R A
Published in American journal of human genetics (01.12.2001)
Published in American journal of human genetics (01.12.2001)
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Journal Article
Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders
Bateman, A, Jouet, M, MacFarlane, J, Du, J. S, Kenwrick, S, Chothia, C
Published in The EMBO journal (15.11.1996)
Published in The EMBO journal (15.11.1996)
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Journal Article
Abnormal corticospinal function but normal axonal guidance in human L1CAM mutations
Dobson, C. B., Villagra, F., Clowry, G. J., Smith, M., Kenwrick, S., Donnai, D., Miller, S., Eyre, J. A.
Published in Brain (London, England : 1878) (01.12.2001)
Published in Brain (London, England : 1878) (01.12.2001)
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Journal Article
Novel corneal features in two males with incontinentia pigmenti
Mayer, E J, Shuttleworth, G N, Greenhalgh, K L, Sansom, J E, Grey, R H B, Kenwrick, S
Published in British journal of ophthalmology (01.05.2003)
Published in British journal of ophthalmology (01.05.2003)
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Journal Article
A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti
Steffann, Julie, Raclin, Valérie, Smahi, Asmae, Woffendin, Hayley, Munnich, Arnold, Kenwrick, Sue J., Grebille, Anne-Gaelle, Benachi, Alexandra, Dumez, Yves, Bonnefont, Jean-Paul, Hadj-Rabia, Smaïl
Published in Prenatal diagnosis (01.05.2004)
Published in Prenatal diagnosis (01.05.2004)
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Journal Article
Linkage studies of X-linked recessive spastic paraplegia using DNA probes
Kenwrick, S, Ionasescu, V, Ionasescu, G, Searby, C, King, A, Dubowitz, M, Davies, K E
Published in Human genetics (01.07.1986)
Published in Human genetics (01.07.1986)
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Journal Article
Mutation analysis of the DKC1 gene in incontinentia pigmenti
HEISS, NINA S, POUSTKA, ANNEMARIE, KNIGHT, STUART W, ARADHYA, SWAROOP, NELSON, DAVID L, LEWIS, RICHARD A, ESPOSITO, TERESA, CICCODICOLA, ALFREDO, D’URSO, MICHELE, SMAHI, ASMAE, HEUERTZ, SOLANGE, MUNNICH, ARNOLD, VABRES, PIERRE, WOFFENDIN, HAYLEY, KENWRICK, SUSAN
Published in Journal of medical genetics (01.11.1999)
Published in Journal of medical genetics (01.11.1999)
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Journal Article
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
Newbury-Ecob, Ruth, Shears, Deborah J, Sutherland-Smith, Andrew J, Wilkie, Andrew O.M, Ørstavik, Karen H, Robertson, Stephen P, Horn, Denise, Quarrell, Oliver W.J, Gorlin, Robert J, Kenwrick, Susan J, Suri, Mohnish, Twigg, Stephen R.F, Biancalana, Valérie, Kim, Chong A, Schwartz, Charles E, Kendrick-Jones, John, Morava, Eva
Published in Nature genetics (01.04.2003)
Published in Nature genetics (01.04.2003)
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X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
Bessia, Christine, Dupuis-Girod, Sophie, Abinun, Mario, Overbeek, Paul A, Casanova, Jean-Laurent, Kenwrick, Sue, Le Deist, Françoise, Headon, Denis J, Fischer, Alain, Reimund, Eric, Courtois, Gilles, Smahi, Asma, Wood, Philip, Geissmann, Frédéric, Rabia, Smail Hadj, Kumararatne, Dinakantha S, Conley, Mary Ellen, Döffinger, Rainer, Belani, Kiran, Holland, Steven M, Munnich, Arnold, Blanche, Stéphane, Shapiro, Ralph, Israël, Alain, Kalhoff, Hermann, Feinberg, Jacqueline, Durandy, Anne, Bodemer, Christine
Published in Nature genetics (01.03.2001)
Published in Nature genetics (01.03.2001)
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Journal Article
Patterns of exon deletions in Duchenne and Becker muscular dystrophy
Read, A P, Mountford, R C, Forrest, S M, Kenwrick, S J, Davies, K E, Harris, R
Published in Human genetics (01.10.1988)
Published in Human genetics (01.10.1988)
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Journal Article
Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
Solomon, Benjamin D, Lacbawan, Felicitas, Mercier, Sandra, Clegg, Nancy J, Delgado, Mauricio R, Rosenbaum, Kenneth, Dubourg, Christèle, David, Veronique, Olney, Ann Haskins, Wehner, Lars-Erik, Hehr, Ute, Bale, Sherri, Paulussen, Aimee, Smeets, Hubert J, Hardisty, Emily, Tylki-Szymanska, Anna, Pronicka, Ewa, Clemens, Michelle, McPherson, Elizabeth, Hennekam, Raoul C M, Hahn, Jin, Stashinko, Elaine, Levey, Eric, Wieczorek, Dagmar, Roeder, Elizabeth, Schell-Apacik, Chayim Can, Booth, Carol W, Thomas, Ronald L, Kenwrick, Sue, Cummings, Derek A T, Bous, Sophia M, Keaton, Amelia, Balog, Joan Z, Hadley, Donald, Zhou, Nan, Long, Robert, Vélez, Jorge I, Pineda-Alvarez, Daniel E, Odent, Sylvie, Roessler, Erich, Muenke, Maximilian
Published in Journal of medical genetics (01.08.2010)
Published in Journal of medical genetics (01.08.2010)
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Journal Article
Neural cell recognition molecule L1: from cell biology to human hereditary brain malformations
Brümmendorf, Thomas, Kenwrick, Susan, Rathjen, Fritz G
Published in Current opinion in neurobiology (01.02.1998)
Published in Current opinion in neurobiology (01.02.1998)
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Journal Article
A new PstI polymorphism between VK21 and St14 in Xq28 (DXS523)
Kenwrick, S, Bridge, P, Lillicrap, D, Bainton, J, Gitschier, J
Published in Nucleic acids research (11.05.1991)
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Published in Nucleic acids research (11.05.1991)
Journal Article
Physical mapping distal to the DMD locus
Love, D.R., Bloomfield, J.F., Kenwrick, S.J., Yates, J.R.W., Davies, K.E.
Published in Genomics (San Diego, Calif.) (01.09.1990)
Published in Genomics (San Diego, Calif.) (01.09.1990)
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