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Items: 1 to 50 of 77

1.

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP.

Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011.

PMID:
30753826
2.

The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors.

Middleton A, Marks P, Bruce A, Protheroe-Davies LK, King C, Claber O, Houghton C, Giffney C, Macleod R, Dolling C, Kenwrick S, Scotcher D, Hall G, Patch C, Boyes L.

Eur J Hum Genet. 2017 Mar 22;25(6):659-661. doi: 10.1038/ejhg.2017.28. Epub 2017 Mar 22.

3.

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, Dubourg C, David V, Olney AH, Wehner LE, Hehr U, Bale S, Paulussen A, Smeets HJ, Hardisty E, Tylki-Szymanska A, Pronicka E, Clemens M, McPherson E, Hennekam RC, Hahn J, Stashinko E, Levey E, Wieczorek D, Roeder E, Schell-Apacik CC, Booth CW, Thomas RL, Kenwrick S, Cummings DA, Bous SM, Keaton A, Balog JZ, Hadley D, Zhou N, Long R, Vélez JI, Pineda-Alvarez DE, Odent S, Roessler E, Muenke M.

J Med Genet. 2010 Aug;47(8):513-24. doi: 10.1136/jmg.2009.073049. Epub 2009 Dec 2.

4.

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.

Steffann J, Raclin V, Smahi A, Woffendin H, Munnich A, Kenwrick SJ, Grebille AG, Benachi A, Dumez Y, Bonnefont JP, Hadj-Rabia S.

Prenat Diagn. 2004 May;24(5):384-8.

PMID:
15164415
5.
6.

Novel corneal features in two males with incontinentia pigmenti.

Mayer EJ, Shuttleworth GN, Greenhalgh KL, Sansom JE, Grey RH, Kenwrick S.

Br J Ophthalmol. 2003 May;87(5):554-6.

7.

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group.

Nat Genet. 2003 Apr;33(4):487-91. Epub 2003 Mar 3.

PMID:
12612583
8.

Cis and trans interactions of L1 with neuropilin-1 control axonal responses to semaphorin 3A.

Castellani V, De Angelis E, Kenwrick S, Rougon G.

EMBO J. 2002 Dec 2;21(23):6348-57.

9.

Incontinentia pigmenti: the first single gene disorder due to disrupted NF-kappa B function.

Kenwrick S.

Ernst Schering Res Found Workshop. 2002;(36):95-107. No abstract available.

PMID:
11859566
10.

Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28.

Aradhya S, Woffendin H, Bonnen P, Heiss NS, Yamagata T, Esposito T, Bardaro T, Poustka A, D'Urso M, Kenwrick S, Nelson DL.

Genomics. 2002 Jan;79(1):31-40.

PMID:
11827455
11.

Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression.

De Angelis E, Watkins A, Schäfer M, Brümmendorf T, Kenwrick S.

Hum Mol Genet. 2002 Jan 1;11(1):1-12.

PMID:
11772994
12.

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes.

Aradhya S, Bardaro T, Galgóczy P, Yamagata T, Esposito T, Patlan H, Ciccodicola A, Munnich A, Kenwrick S, Platzer M, D'Urso M, Nelson DL.

Hum Mol Genet. 2001 Oct 15;10(22):2557-67.

PMID:
11709543
13.

Abnormal corticospinal function but normal axonal guidance in human L1CAM mutations.

Dobson CB, Villagra F, Clowry GJ, Smith M, Kenwrick S, Donnai D, Miller S, Eyre JA.

Brain. 2001 Dec;124(Pt 12):2393-406.

PMID:
11701594
14.

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 SG, 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 JP, Munnich A, Aradhya S, Kashork CD, Shaffer LG, Nelson DL, Levy M, Lewis RA; International IP Consortium.

Am J Hum Genet. 2001 Dec;69(6):1210-7. Epub 2001 Oct 22.

15.

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.

Aradhya S, Woffendin H, Jakins T, Bardaro T, Esposito T, Smahi A, Shaw C, Levy M, Munnich A, D'Urso M, Lewis RA, Kenwrick S, Nelson DL.

Hum Mol Genet. 2001 Sep 15;10(19):2171-9.

PMID:
11590134
17.

Alternative use of a mini exon of the L1 gene affects L1 binding to neural ligands.

De Angelis E, Brummendorf T, Cheng L, Lemmon V, Kenwrick S.

J Biol Chem. 2001 Aug 31;276(35):32738-42. Epub 2001 Jul 2.

18.

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.

Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israël A, Courtois G, Casanova JL.

Nat Genet. 2001 Mar;27(3):277-85.

PMID:
11242109
19.

Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.

Mansour S, Woffendin H, Mitton S, Jeffery I, Jakins T, Kenwrick S, Murday VA.

Am J Med Genet. 2001 Mar 1;99(2):172-7.

PMID:
11241484
20.

Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2.

Aradhya S, Ahobila P, Lewis RA, Nelson DL, Esposito T, Ciccodicola A, Bardaro T, D'Urso M, Woffendin H, Kenwrick S, Smahi A, Heuertz S, Munnich A, Heiss NS, Poustka A, Chishti AH.

Am J Med Genet. 2000 Sep 4;94(1):79-84. No abstract available.

PMID:
10982489
21.

Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti.

Woffendin H, Esposito T, Jakins T, Bardaro T, Stern MH, Kenwrick S.

Eur J Hum Genet. 2000 Apr;8(4):239-40. No abstract available.

22.

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israël A, Heiss NS, Klauck SM, Kioschis P, Wiemann S, Poustka A, Esposito T, Bardaro T, Gianfrancesco F, Ciccodicola A, D'Urso M, Woffendin H, Jakins T, Donnai D, Stewart H, Kenwrick SJ, Aradhya S, Yamagata T, Levy M, Lewis RA, Nelson DL.

Nature. 2000 May 25;405(6785):466-72.

PMID:
10839543
23.

Neural cell recognition molecule L1: relating biological complexity to human disease mutations.

Kenwrick S, Watkins A, De Angelis E.

Hum Mol Genet. 2000 Apr 12;9(6):879-86. Review.

PMID:
10767310
24.

Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2.

Aradhya S, Nelson DL, Heiss NS, Poustka A, Woffendin H, Kenwrick S, Esposito T, Ciccodicola A, Bardaro T, D'Urso M, Smahi A, Munnich A, Herman GE, Lewis RA.

Am J Med Genet. 2000 Mar 20;91(3):241-4. No abstract available.

PMID:
10756353
25.

Mutation analysis of the DKC1 gene in incontinentia pigmenti.

Heiss NS, Poustka A, Knight SW, Aradhya S, Nelson DL, Lewis RA, Esposito T, Ciccodicola A, D'Urso M, Smahi A, Heuertz S, Munnich A, Vabres P, Woffendin H, Kenwrick S.

J Med Genet. 1999 Nov;36(11):860-2. No abstract available.

26.

Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.

De Angelis E, MacFarlane J, Du JS, Yeo G, Hicks R, Rathjen FG, Kenwrick S, Brümmendorf T.

EMBO J. 1999 Sep 1;18(17):4744-53.

27.

X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation.

Woffendin H, Jakins T, Jouet M, Stewart H, Landy S, Haan E, Harris A, Donnai D, Read A, Kenwrick S.

Clin Genet. 1999 Jan;55(1):55-60.

PMID:
10066033
28.

Neural cell adhesion molecule L1: relating disease to function.

Kenwrick S, Doherty P.

Bioessays. 1998 Aug;20(8):668-75. Review.

PMID:
9780841
29.

Alternative Splicing of Human NrCAM in Neural and Nonneural Tissues.

Wang B, Williams H, Du JS, Terrett J, Kenwrick S.

Mol Cell Neurosci. 1998 Apr;10(5/6):287-95.

PMID:
9618219
30.

Alternative splicing of human NrCAM in neural and nonneural tissues.

Wang B, Williams H, Du JS, Terrett J, Kenwrick S.

Mol Cell Neurosci. 1998 Apr;10(5-6):287-95.

PMID:
9604207
31.

Neural cell recognition molecule L1: from cell biology to human hereditary brain malformations.

Brümmendorf T, Kenwrick S, Rathjen FG.

Curr Opin Neurobiol. 1998 Feb;8(1):87-97. Review.

PMID:
9568396
32.

Chinese hamster ovary cells resistant to the topoisomerase II catalytic inhibitor ICRF-159: a Tyr49Phe mutation confers high-level resistance to bisdioxopiperazines.

Sehested M, Wessel I, Jensen LH, Holm B, Oliveri RS, Kenwrick S, Creighton AM, Nitiss JL, Jensen PB.

Cancer Res. 1998 Apr 1;58(7):1460-8.

33.

The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu.

Coutelle O, Nyakatura G, Taudien S, Elgar G, Brenner S, Platzer M, Drescher B, Jouet M, Kenwrick S, Rosenthal A.

Gene. 1998 Feb 16;208(1):7-15.

PMID:
9479034
34.

Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus.

Du JS, Bason L, Woffendin H, Zackai E, Kenwrick S.

Am J Med Genet. 1998 Jan 13;75(2):200-2.

PMID:
9450886
35.

Radiation hybrid mapping of the genes for tenascin-R (TNR), phosducin (PDC), laminin C1 (LAMC1), and TAX in 1q25-q32.

Williams H, Schachner M, Wang B, Kenwrick S.

Genomics. 1997 Nov 15;46(1):165-6. No abstract available.

PMID:
9403076
36.

Linkage analysis in 16 families with incontinentia pigmenti.

Jouet M, Stewart H, Landy S, Yates J, Yong SL, Harris A, Garret C, Hatchwell E, Read A, Donnai D, Kenwrick S.

Eur J Hum Genet. 1997 May-Jun;5(3):168-70.

PMID:
9272741
37.

Nine novel L1 CAM mutations in families with X-linked hydrocephalus.

MacFarlane JR, Du JS, Pepys ME, Ramsden S, Donnai D, Charlton R, Garrett C, Tolmie J, Yates JR, Berry C, Goudie D, Moncla A, Lunt P, Hodgson S, Jouet M, Kenwrick S.

Hum Mutat. 1997;9(6):512-8.

PMID:
9195224
38.

Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.

Bateman A, Jouet M, MacFarlane J, Du JS, Kenwrick S, Chothia C.

EMBO J. 1996 Nov 15;15(22):6050-9.

39.
40.

X linked hydrocephalus and MASA syndrome.

Kenwrick S, Jouet M, Donnai D.

J Med Genet. 1996 Jan;33(1):59-65. Review.

41.

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

Jouet M, Moncla A, Paterson J, McKeown C, Fryer A, Carpenter N, Holmberg E, Wadelius C, Kenwrick S.

Am J Hum Genet. 1995 Jun;56(6):1304-14.

42.

Exon 2 of the gene for neural cell adhesion molecule L1 is alternatively spliced in B cells.

Jouet M, Rosenthal A, Kenwrick S.

Brain Res Mol Brain Res. 1995 Jun;30(2):378-80.

PMID:
7637589
43.

Mutations in the cell adhesion molecule L1 cause mental retardation.

Wong EV, Kenwrick S, Willems P, Lemmon V.

Trends Neurosci. 1995 Apr;18(4):168-72. Review.

PMID:
7778187
44.

Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus.

Jouet M, Kenwrick S.

Lancet. 1995 Jan 21;345(8943):161-2.

PMID:
7823673
45.

A DNA fragment from Xq21 replaces a deleted region containing the entire FVIII gene in a severe hemophilia A patient.

Murru S, Casula L, Casarino L, Moi P, Rocchi M, Loi A, Figus A, Mannella M, Poddie D, Kenwrick S, et al.

Genomics. 1994 Sep 15;23(2):352-61.

PMID:
7835884
46.

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.

Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S.

Nat Genet. 1994 Jul;7(3):402-7.

PMID:
7920659
47.

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.

Coucke P, Vits L, Van Camp G, Serville F, Lyonnet S, Kenwrick S, Rosenthal A, Wehnert M, Munnich A, Willems PJ.

Hum Mol Genet. 1994 Apr;3(4):671-3. No abstract available.

PMID:
8069317
48.

Localization of the human TAX-1 gene to 1q32.1: a region implicated in microcephaly and Van der Woude syndrome.

Kenwrick S, Leversha M, Rooke L, Hasler T, Sonderegger P.

Hum Mol Genet. 1993 Sep;2(9):1461-2. No abstract available.

PMID:
8242070
49.

A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)

Jouet M, Rosenthal A, MacFarlane J, Kenwrick S, Donnai D.

Nat Genet. 1993 Aug;4(4):331. No abstract available.

PMID:
8401576
50.

Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

Jouet M, Feldman E, Yates J, Donnai D, Paterson J, Siggers D, Kenwrick S.

J Med Genet. 1993 Mar;30(3):214-7.

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