Goodship, Judith A.: search on Z-Library

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1

X-inactivation patterns in monozygotic and dizygotic female twins

Goodship, Judith, Carter, Joan, Burn, John

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 438 KB

1996

2

Lack of major involvement of human uroplakin genes in vesicoureteral reflux: Implications for disease heterogeneity

Jiang, Songshan, Gitlin, Jordan, Deng, Fang-Ming, Liang, Feng-Xia, Lee, Andy, Atala, Anthony, Bauer, Stuart B., Ehrlich, Garth D., Feather, Sally A., Goldberg, Judith D., Goodship, Judith A., Goodship

Journal:

Kidney International

Year:

2004

Language:

english

File:

PDF, 314 KB

english, 2004

3

Developmental genetics of the heart

John Burn, Judith Goodship

Journal:

Current Opinion in Genetics & Development

Year:

1996

Language:

english

File:

PDF, 410 KB

english, 1996

4

Linkage of PGK1 to X-linked severe combined immunodeficiency (IMD4) allows predictive testing in families with no surviving male

Judith Goodship, Roland Levinsky, Sue Malcolm

Journal:

Year:

1989

Language:

english

File:

PDF, 346 KB

english, 1989

5

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Victor L. Ruiz-Perez, W.J. Stuart Tompson, J. Helen Blair, Cecilia Espinoza-Valdez, Pablo Lapunzina, Elias O. Silva, Ben Hamel, John L. Gibbs, Ian D. Young, Michael J. Wright, Judith A. Goodship

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 848 KB

english, 2003

6

UFD1L is not the monogenic basis for heart defects associated with the CATCH phenotype

Judith A. Goodship, John Burn

Journal:

Molecular Medicine Today

Year:

2000

Language:

english

File:

PDF, 20 KB

english, 2000

7

Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency and affect recognition functions

Mihály Józsi, Stefanie Strobel, Svante L.H. Zipfel, Heiko Richter, Stefan Heinen, Barbara Uzonyi, Matthew Edey, Danny Routledge, Lisa Strain, Anne E. Hughes, Judith A. Goodship, Timothy H.J. Goodship,

Journal:

Molecular Immunology

Year:

2007

Language:

english

File:

PDF, 56 KB

english, 2007

8

Neuromuscular disease presentation with three genetic defects involving two genomes

Mazhor Al-Dosary, Roger G. Whittaker, Joanna Haughton, Robert McFarland, Judith Goodship, Douglass M. Turnbull, Robert W. Taylor

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 350 KB

english, 2009

9

Is the novel SCKL3 at 14q23 the predominant Seckel locus?

Kılınç, Mehmet Okyay, Ninis, Vasiliki Ninidu, U[gcaron]ur, Sibel Aylin, Tüysüz, Beyhan, Seven, Mehmet, Balcı, Sevim, Goodship, Judith, Tolun, Aslıhan

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 161 KB

english, 2003

10

Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome

Wadey, Roy, Daw, Sara, Taylor, Catherine, Atif, Uzma, Kamath, Shalan, Halford, Stephanie, O‘Donnell, Hilary, Wilson, David, Goodship, Judith, Burn, John, Scambler, Peter

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 4.51 MB

english, 1995

11

The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin

David Morgan, Judith Goodship, Jeffrey J. Essner, Kyle J. Vogan, Lee Turnpenny, Joseph H. Yost, Clifford J. Tabin, Tom Strachan

Journal:

Year:

2002

Language:

english

File:

PDF, 266 KB

english, 2002

12

A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome

O'Driscoll, Mark, Ruiz-Perez, Victor L., Woods, C. Geoffrey, Jeggo, Penny A., Goodship, Judith A.

Journal:

Nature Genetics

Year:

2003

Language:

english

File:

PDF, 416 KB

english, 2003

13

Left-isomerism sequence and maternal type-1 diabetes

Miranda Splitt, Chris Wright, Debbie Sen, Judith Goodship

Journal:

Year:

1999

Language:

english

File:

PDF, 44 KB

english, 1999

14

Cilia and disease

Lorraine Eley, Laura M Yates, Judith A Goodship

Journal:

Current Opinion in Genetics & Development

Year:

2005

Language:

english

File:

PDF, 376 KB

english, 2005

15

Structure of the Glycosaminoglycan Domain in the Type IX Collagen-Proteoglycan

Danny McCormick, Michel Van Der Rest, Judith Goodship, Guillermina Lozano, Yoshifumi Ninomiya and Bjorn R. Olsen

Journal:

Proceedings of the National Academy of Sciences

Year:

1987

Language:

english

File:

PDF, 810 KB

english, 1987

16

Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation

Howey, Richard, Mamasoula, Chrysovalanto, Töpf, Ana, Nudel, Ron, Goodship, Judith A., Keavney, Bernard D., Cordell, Heather J.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1015 KB

english, 2015

17

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis–van Creveld syndrome with borderline intelligence

Samia A. Temtamy, Mona S. Aglan, Maria Valencia, Guido Cocchi, Maria Pacheco, Adel M. Ashour, Khalda S. Amr, Sanaa M.H. Helmy, Mona A. El-Gammal, Michael Wright, Pablo Lapunzina, Judith A. Goodship, V

Journal:

Year:

2008

Language:

english

File:

PDF, 385 KB

english, 2008

18

10.1038/2450

Morgan, David, Turnpenny, Lee, Goodship, Judith, Dai, Weilie, Majumder, Kumud, Matthews, Lucy, Gardner, Alison, Schuster, Gaby, Vien, Long, Harrison, Wilbur, Elder, Frederick F.B., Penman-Splitt, Mira

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 468 KB

english, 1998

19

The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16

Mihael H. Polymeropoulos, Susan E. Ide, Michael Wright, Judith Goodship, Jean Weissenbach, Reed E. Pyeritz, Elias O. Da Silva, Rosa Isela Ortiz De Luna, Clair A. Francomano

Journal:

Year:

1996

Language:

english

File:

PDF, 114 KB

english, 1996

20

Duchenne muscular dystrophy and idiopathic hyperCKemia in a family causing confusion in genetic counselling

Bushby, Katharine, Goodship, Judith, Haggerty, Daisy, Heald, Andrew, Walls, Timothy

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 136 KB

english, 1996

21

The genetics and pathogenesis of haemolytic uraemic syndrome and thrombotic thrombocytopenic purpura

Richards, Anna, Goodship, Judith A., Goodship, Timothy H.J.

Journal:

Current Opinion in Nephrology & Hypertension

Year:

2002

Language:

english

File:

PDF, 82 KB

english, 2002

22

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11

David Kelly, Rosalie Goldberg, David Wilson, Elizabeth Lindsay, Alisoun Carey, Judith Goodship, John Burn, Ian Cross, Robert J. Shprintzen, Dr. Peter J. Scambler

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 963 KB

english, 1993

23

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

Mackay, Deborah J G, Callaway, Jonathan L A, Marks, Sophie M, White, Helen E, Acerini, Carlo L, Boonen, Susanne E, Dayanikli, Pinar, Firth, Helen V, Goodship, Judith A, Haemers, Andreas P

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 733 KB

english, 2008

24

Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition

Anna Richards, Mark R. Buddles, Rosemary L. Donne, Bernard S. Kaplan, Edwin Kirk, Michael C. Venning, Christian L. Tielemans, Judith A. Goodship, Timothy H.J. Goodship

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 376 KB

english, 2001

25

Three new polymorphisms in the human complement factorHgene and promoter region

P. Warwicker, Timothy H. J. Goodship, Judith A. Goodship

Journal:

Year:

1997

Language:

english

File:

PDF, 136 KB

english, 1997

26

Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base

María Pacheco, María Valencia, José A. Caparrós-Martín, Francisca Mulero, Judith A. Goodship, Victor L. Ruiz-Perez

Journal:

Year:

2012

Language:

english

File:

PDF, 3.59 MB

english, 2012

27

Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age

Moss, Joanna, Penhallow, Jessica, Ansari, Morad, Barton, Stephanie, Bourn, David, FitzPatrick, David R., Goodship, Judith, Hammond, Peter, Roberts, Catherine, Welham, Alice, Oliver, Chris

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 268 KB

english, 2017

28

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

Helen J Blair, Stuart Tompson, Yu-Ning Liu, Jennifer Campbell, Katie MacArthur, Chris P Ponting, Victor L Ruiz-Perez, Judith A Goodship

Journal:

Year:

2011

Language:

english

File:

PDF, 1.88 MB

english, 2011

29

SequencingEVCandEVC2identifies mutations in two-thirds of Ellis–van Creveld syndrome patients

Stuart W. J. Tompson, Victor L. Ruiz-Perez, Helen J. Blair, Stephanie Barton, Victoria Navarro, Joanne L. Robson, Michael J. Wright, Judith A. Goodship

Journal:

Year:

2007

Language:

english

File:

PDF, 390 KB

english, 2007

30

Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome

David Kavanagh, Anna Richards, Marina Noris, Richard Hauhart, M. Kathryn Liszewski, Diana Karpman, Judith A. Goodship, Veronique Fremeaux-Bacchi, Giuseppe Remuzzi, Timothy H.J. Goodship, John P. Atkin

Journal:

Molecular Immunology

Year:

2008

Language:

english

File:

PDF, 914 KB

english, 2008

31

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

Montgomery, Emma, Sayer, John A., Baines, Laura A., Hynes, Ann Marie, Vega-Warner, Virginia, Johnson, Sally, Goodship, Judith A., Otto, Edgar A.

Journal:

BMC Medical Genetics

Year:

2015

Language:

english

File:

PDF, 563 KB

english, 2015

32

De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome

Stefan Heinen, Pilar Sanchez-Corral, Michael S Jackson, Lisa Strain, Judith A. Goodship, Elizabeth J. Kemp, Christine Skerka, T. Sakari Jokiranta, Kevin Meyers, Eric Wagner, Pierre Robitaille, Jorge E

Journal:

Year:

2006

Language:

english

File:

PDF, 315 KB

english, 2006

33

Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations

Bingham, Coralie, Ellard, Sian, Cole, Trevor R.P, Jones, Katrin E., Allen, Lisa I.S., Goodship, Judith A., Goodship, Timothy H.J., Bakalinova-Pugh, Daniela, Russell, Gavin I., Woolf, Adrian S., Nichol

Journal:

Kidney International

Year:

2002

Language:

english

File:

PDF, 290 KB

english, 2002

34

Mutational analysis of thePITX2coding region revealed no common cause for transposition of the great arteries (dTGA)

Nadja Muncke, Beate Niesler, Ralph Roeth, Karin Schön, Heinz-Juergen Rüdiger, Elizabeth Goldmuntz, Judith Goodship, Gudrun Rappold

Journal:

BMC Medical Genetics

Year:

2005

Language:

english

File:

PDF, 692 KB

english, 2005

35

Genetic studies into inherited and sporadic hemolytic uremic syndrome

Warwicker, Paul, Goodship, Timothy H.J., Donne, Rosemary L., Pirson, Yves, Nicholls, Anthony, Ward, Roy M., Turnpenny, Peter, Goodship, Judith A.

Journal:

Kidney International

Year:

1998

Language:

english

File:

PDF, 412 KB

english, 1998

36

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

Hove, Hanne, Kjaergaard, Susanne, Kemp, Helena, Kingston, Helen, Lunt, Peter, Mansour, Sahar, Hastings, Rob, Cobben, Jan-Maarten, Gillessen-Kaesbach, Gabriele, Goodship, Judith

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 522 KB

english, 2011

37

Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24

Judith Goodship, Harinder Gill, Joan Carter, Andrew Jackson, Miranda Splitt, Michael Wright

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 499 KB

english, 2000

38

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

Daw, Sara C.M., Taylor, Catherine, Kraman, Matthew, Call, Kathy, Mao, Jen-i, Schuffenhauer, Simone, Meitinger, Thomas, Lipson, Tony, Goodship, Judith, Scambler, Peter

Journal:

Nature Genetics

Year:

1996

File:

PDF, 423 KB

1996

39

Cardiac surgery in the setting of trisomy 13

Goodship, Judith

Journal:

Cardiology in the Young

Year:

2000

Language:

english

File:

PDF, 72 KB

english, 2000

40

Genetic studies into inherited and sporadic hemolytic uremic syndrome

Warwicker, Paul, Goodship, Timothy H.J., Donne, Rosemary L., Pirson, Yves, Nicholls, Anthony, Ward, Roy M., Turnpenny, Peter, Goodship, Judith A.

Journal:

Kidney International

Year:

1998

Language:

english

File:

PDF, 406 KB

english, 1998

41

Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome

Zipfel, Peter F., Edey, Matthew, Heinen, Stefan, Józsi, Mihály, Richter, Heiko, Misselwitz, Joachim, Hoppe, Bernd, Routledge, Danny, Strain, Lisa, Hughes, Anne E., Goodship, Judith A., Licht, Christop

Journal:

Year:

2007

Language:

english

File:

PDF, 389 KB

english, 2007

42

Ellis–van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

Victor L. Ruiz-Perez, Judith A. Goodship

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2009

Language:

english

File:

PDF, 253 KB

english, 2009

43

Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p

Maria Cristina Digilio, Isabella Torrente, Judith A. Goodship, Bruno Marino, Giuseppe Novelli, Aldo Giannotti, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 171 KB

english, 2004

44

Mutation screening by a combination of biotin-SSCP and direct sequencing

Amarjit S. Virdi, John A. Loughlin, Catherine M. Irven, Judith Goodship, Bryan C. Sykes

Journal:

Year:

1994

Language:

english

File:

PDF, 660 KB

english, 1994

45

A perspective on inversin

Lorraine Eley, Lee Turnpenny, Laura M Yates, A.Scott Craighead, David Morgan, Catherine Whistler, Judith A Goodship, Tom Strachan

Journal:

Cell Biology International

Year:

2004

Language:

english

File:

PDF, 878 KB

english, 2004

46

10.1038/75578

Gelb, Bruce D., Satoda, Masahiko, Zhao, Feng, Diaz, George A., Burn, John, Goodship, Judith, Davidson, H. Rosemarie, Pierpont, Mary Ella M.

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 413 KB

english, 2000

47

Determining the Population Frequency of the CFHR3/CFHR1 Deletion at 1q32

Holmes, Lucy V., Strain, Lisa, Staniforth, Scott J., Moore, Iain, Marchbank, Kevin, Kavanagh, David, Goodship, Judith A., Cordell, Heather J., Goodship, Timothy H. J., Remuzzi, Giuseppe

Journal:

Year:

2013

Language:

english

File:

PDF, 156 KB

english, 2013

48

Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome

Halford, Stephanie, Wilson, David I, DAW, Sara C.M., Roberts, Cathrine, Wadey, Roy, Kamath, Shalan, Wickremasinghe, Amal, Burn, John, Goodship, Judith, Mattel, Marie-Genevieve, Moormon, F.M., Sclamble

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.57 MB

english, 1993

49

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Keng, Wee Teik, King, Mary D., McCann, E

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 2.85 MB

english, 2015

50

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation

Huay L. Tan, Elise Glen, Ana Töpf, Darroch Hall, John J O'Sullivan, Linda Sneddon, Christopher Wren, Peter Avery, Richard J. Lewis, Peter ten Dijke, Helen M. Arthur, Judith A. Goodship, Bernard D. Kea

Journal:

Year:

2012

Language:

english

File:

PDF, 382 KB

english, 2012

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