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1

[Advances in Experimental Medicine and Biology] Somitogenesis Volume 638 || Formation and Differentiation of Avian Somite Derivatives

Maroto, Miguel, Whittock, Neil V.

Year:

2009

Language:

english

File:

PDF, 3.57 MB

english, 2009

2

Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report

Alan R. Thornhill, Susan J. Pickering, Neil V. Whittock, Jenny Caller, Vicky Andritsos, Helen E. Bickerstaff, Alan H. Handyside, Robin A. J. Eady, Peter R. Braude, John A. McGrath

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 253 KB

english, 2000

3

Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome

Whittock, Neil V., Wan, Hong, Eady, Robin A.J., Morley, Susan M., Garzon, Maria C., Kristal, Leonard, Hyde, Patrice, Irwin McLean, W.H., Pulkkinen, Leena, Uitto, Juoni, Christiano, Angela M., McGrath,

Journal:

The Journal of Investigative Dermatology

Year:

2002

Language:

english

File:

PDF, 439 KB

english, 2002

4

Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

Whittock, Neil V, Ashton, Gabrielle H S, Mohammedi, Rafik, Mellerio, Jemima E, Mathew, Christopher G, Abbs, Stephen J, Eady, Robin A J, McGrath, John A

Journal:

The Journal of Investigative Dermatology

Year:

1999

Language:

english

File:

PDF, 342 KB

english, 1999

5

Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

Whittock, Neil V, Ashton, Gabrielle H S, Dopping-Hepenstal, Patricia J C, Gratian, Matthew J, Keane, Fiona M, Eady, Robin A J, McGrath, John A

Journal:

The Journal of Investigative Dermatology

Year:

1999

Language:

english

File:

PDF, 563 KB

english, 1999

6

The Gene for Naegeli-Franceschetti-Jadassohn Syndrome Maps to 17q21

Whittock, Neil V., Coleman, Carrie M., McLean, W. H. Irwin, Ashton, Gabrielle H. S., Acland, K. M., Eady, Robin A. J., McGrath, John A.

Journal:

The Journal of Investigative Dermatology

Year:

2000

Language:

english

File:

PDF, 271 KB

english, 2000

7

Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome

Whittock, Neil V., Haftek, Marek, Angoulvant, Nathalie, Wolf, Francois, Perrot, Henri, Eady, Robin A. J., McGrath, John A.

Journal:

The Journal of Investigative Dermatology

Year:

2000

Language:

english

File:

PDF, 617 KB

english, 2000

8

Frameshift Mutation in the V2 Domain of Human Keratin 1 Results in Striate Palmoplantar Keratoderma

Whittock, Neil V., Smith, Frances J., Wan, Hong, Mallipeddi, Rajeev, Griffiths, W. Andrew, Dopping-Hepenstal, Patricia, Ashton, Gabrielle H., Eady, Robin A., McLean, W. H. Irwin, McGrath, John A.

Journal:

The Journal of Investigative Dermatology

Year:

2002

Language:

english

File:

PDF, 267 KB

english, 2002

9

Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles

Porter, Rebecca M., Jahoda, Colin A. B., Lunny, Declan P., Henderson, Gayle, Ross, Jane, Irwin McLean, W. H., Whittock, Neil V., Wilson, Neil J., Reichelt, Julia, Magin, Thomas M., Lane, E. Birgitte

Journal:

The Journal of Investigative Dermatology

Year:

2002

Language:

english

File:

PDF, 289 KB

english, 2002

10

Refined Mapping of Naegeli-Franceschetti- Jadassohn Syndrome to a 6 cM Interval on Chromosome 17q11.2-q21 and Investigation of Candidate Genes

Sprecher, Eli, Itin, Peter, Whittock, Neil V., McGrath, John A., Meyer, Rudolph, DiGiovanna, John J., Bale, Sherri J., Uitto, Jouni, Richard, Gabriele

Journal:

The Journal of Investigative Dermatology

Year:

2002

Language:

english

File:

PDF, 409 KB

english, 2002

11

Genetic Evidence for a Novel Human Desmosomal Cadherin, Desmoglein 4

Whittock, Neil V, Bower, Christopher

Journal:

The Journal of Investigative Dermatology

Year:

2003

Language:

english

File:

PDF, 643 KB

english, 2003

12

Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)

Whittock, Neil V., Izatt, Louise, Mann, Anuska, Homfray, Tessa, Bennett, Christopher, Mansour, Sahar, Hurst, Jane, Fryer, Alan, Saggar, Anand K., Barwell, Julian G., Ellard, Sian, Clayton, Peter T.

Journal:

The Journal of Investigative Dermatology

Year:

2003

Language:

english

File:

PDF, 402 KB

english, 2003

13

Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis

Neil V. Whittock, Dr Peter D. Turnpenny, Joep Tuerlings, Sian Ellard

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 137 KB

english, 2003

14

Genomic localization, organization and amplification of the human zinc transporter protein gene,ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathica

Oliver Bleck, Gabrielle H. S. Ashton, Rajeev Mallipeddi, Andrew P. South, Neil V. Whittock, W. H. Irwin McLean, David J. Atherton, J. A. McGrath

Journal:

Archives of Dermatological Research

Year:

2001

Language:

english

File:

PDF, 68 KB

english, 2001

15

Genomic Sequence Analysis of the Mouse Desmoglein Cluster Reveals Evidence for Six Distinct Genes: Characterization of Mouse DSG4, DSG5, and DSG6

Whittock, Neil Vincent

Journal:

The Journal of Investigative Dermatology

Year:

2003

Language:

english

File:

PDF, 596 KB

english, 2003

16

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

Hunt, Debbie M, Rickman, Lisa, Whittock, Neil V, Eady, Robin AJ, Šimrak, Danijela, Dopping-Hepenstal, Patricia JC, Stevens, Howard P, Armstrong, D Keith B, Hennies, Hans Christian, Küster, Wolfgang

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 118 KB

english, 2001

17

[Advances in Experimental Medicine and Biology] Somitogenesis Volume 638 || Defective Somitogenesis and Abnormal Vertebral Segmentation in Man

Maroto, Miguel, Whittock, Neil V.

Year:

2009

Language:

english

File:

PDF, 2.13 MB

english, 2009

18

Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes

Neil V. Whittock, Robin A.J. Eady, John A. McGrath

Journal:

Biochemical and Biophysical Research Communications

Year:

2000

Language:

english

File:

PDF, 57 KB

english, 2000

19

Genomic Organization and Amplification of the Human Epidermal Type II Keratin Genes K1 and K5

Neil V. Whittock, Robin A.J. Eady, John A. McGrath

Journal:

Biochemical and Biophysical Research Communications

Year:

2000

Language:

english

File:

PDF, 70 KB

english, 2000

20

Genomic Organization and Amplification of the Human Desmosomal Cadherin Genes DSC1 and DSC3, Encoding Desmocollin Types 1 and 3

Neil V. Whittock, Debbie M. Hunt, Lisa Rickman, Sukhjit Malhi, Artemis P. Vogazianou, Lisa F. Dawson, Robin A.J. Eady, Roger S. Buxton, John A. McGrath

Journal:

Biochemical and Biophysical Research Communications

Year:

2000

Language:

english

File:

PDF, 71 KB

english, 2000

21

Genomic Organization, Amplification, Fine Mapping, and Intragenic Polymorphisms of the Human Hemidesmosomal Tetraspanin CD151 Gene

Neil V. Whittock, W.H.Irwin McLean

Journal:

Biochemical and Biophysical Research Communications

Year:

2001

Language:

english

File:

PDF, 103 KB

english, 2001

22

Mutated MESP2 Causes Spondylocostal Dysostosis in Humans

Neil V. Whittock, Duncan B. Sparrow, Merridee A. Wouters, David Sillence, Sian Ellard, Sally L. Dunwoodie, Peter D. Turnpenny

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.11 MB

english, 2004

23

Type VII collagen gene (COL7A1) mutation screening in recessive dystrophic epidermolysis bullosa using the protein truncation test

Whittock, Neil V, Mathew, Christopher, McGrath, John A, Eady, Robin AJ, Mellerio, Jemima E, Abbs, Stephen

Journal:

Journal of Dermatological Science

Year:

1998

Language:

english

File:

PDF, 176 KB

english, 1998

24

[Advances in Experimental Medicine and Biology] Somitogenesis Volume 638 ||

Maroto, Miguel, Whittock, Neil V.

Year:

2009

Language:

english

File:

PDF, 18.56 MB

english, 2009

25

Dystrophin Point Mutation Screening Using a Multiplexed Protein Truncation Test

WHITTOCK, NEIL V., ROBERTS, ROLAND G., MATHEW, CHRISTOPHER G., ABBS, STEPHEN J.

Journal:

Genetic Testing

Year:

1997

Language:

english

File:

PDF, 2.42 MB

english, 1997

26

Genomic Sequence Analysis of the Mouse Desmoglein Cluster Reveals Evidence for Six Distinct Genes: Characterization of Mouse DSG4, DSG5, and DSG6

Whittock, Neil Vincent

Journal:

The Journal of Investigative Dermatology

Year:

2003

Language:

english

File:

PDF, 687 KB

english, 2003

27

A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel

Whittock, Neil Vincent, Sher, Carron, Gold, Isaac, Libman, Vitalia, Reish, Orit

Journal:

Genetics in Medicine

Year:

2003

Language:

english

File:

PDF, 342 KB

english, 2003