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1

Subadult sex estimation from diaphyseal dimensions

Stull, Kyra E., L'Abbé, Ericka N., Ousley, Stephen D.

Journal:

American Journal of Physical Anthropology

Year:

2017

Language:

english

File:

PDF, 1.17 MB

english, 2017

2

Prenatal diagnosis of Duchenne and Becker muscular dystrophy

Journal:

Prenatal Diagnosis

Year:

1996

Language:

english

File:

PDF, 1.02 MB

english, 1996

3

Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients

Caroline Godfrey, Emma Clement, Stephen Abbs, Francesco Muntoni

Journal:

Year:

2011

Language:

english

File:

PDF, 88 KB

english, 2011

4

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

Maria Kinali, Virginia Arechavala-Gomeza, Lucy Feng, Sebahattin Cirak, David Hunt, Carl Adkin, Michela Guglieri, Emma Ashton, Stephen Abbs, Petros Nihoyannopoulos, Maria Elena Garralda, Mary Rutherfor

Journal:

The Lancet Neurology

Year:

2009

Language:

english

File:

PDF, 610 KB

english, 2009

5

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

Fatemeh Geranmayeh, Emma Clement, Lucy H Feng, Caroline Sewry, Judith Pagan, Rachael Mein, Stephen Abbs, Louise Brueton, Anne-Marie Childs, Heinz Jungbluth, Christian G De Goede, Bryan Lynch, Jean-Pie

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 573 KB

english, 2010

6

Predictors of Persistence and Remission of ADHD into Adolescence: Results from a Four-Year Prospective Follow-up Study

BIEDERMAN, JOSEPH, FARAONE, STEPHEN, MILBERGER, SHARON, CURTIS, SHANNON, CHEN, LISA, MARRS, ABBE, OUELLETTE, CHERYL, MOORE, PHOEBE, SPENCER, THOMAS

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

1996

Language:

english

File:

PDF, 7.41 MB

english, 1996

7

Linkage of emery-dreifuss muscular dystrophy to the red/green cone pigment (RGCP) genes, proximal to factor VIII

Cole, Charlotte G., Abbs, Stephen J., Dubowitz, Victor, Hodgson, Shirley V., Warner, Jon, Merlini, Luciano, Bobrow, Martin

Journal:

Neuromuscular Disorders

Year:

1992

Language:

english

File:

PDF, 529 KB

english, 1992

8

Application of Fordisc 3.0 to Explore Differences Among Crania of North American and South African Blacks and Whites ,

L'Abbé, Ericka N., Kenyhercz, Michael, Stull, Kyra E., Keough, Natalie, Nawrocki, Stephen

Journal:

Journal of Forensic Sciences

Year:

2013

Language:

english

File:

PDF, 103 KB

english, 2013

9

Mosaicism for a pathogenicMFN2mutation causes minimal clinical features of CMT2A in the parent of a severely affected child

Schon, Katherine, Spasic-Boskovic, Olivera, Brugger, Kim, Graves, Tracey D., Abbs, Stephen, Park, Soo-Mi, Ambegaonkar, Gautam, Armstrong, Ruth

Journal:

Year:

2017

Language:

english

File:

PDF, 2.91 MB

english, 2017

10

Association of Hippocampal Substructure Resting-State Functional Connectivity with Memory Performance in Older Adults

Smagula, Stephen F., Karim, Helmet T., Rangarajan, Anusha, Santos, Fernando Pasquini, Wood, Sossena C., Santini, Tales, Jakicic, John M., Reynolds, Charles F., Cameron, Judy L., Vallejo, Abbe N., Butt

Journal:

American Journal of Geriatric Psychiatry

Year:

2018

Language:

english

File:

PDF, 642 KB

english, 2018

11

Cancer in relatives of survivors of childhood sarcoma

Eileen Burke, Frederick P. Li, Abbe J. Janov, Stephen Batter, Holcombe Grier, Allen Goorin

Journal:

Year:

1991

Language:

english

File:

PDF, 271 KB

english, 1991

12

Pathogenic and nonpathogenic deletions in two families with Duchenne muscular dystrophy

Kevin A. Hart, Stephen Abbs, Martin Bobrow

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 364 KB

english, 1989

13

X-linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations

Joanna McCauley, Navta Masand, Ruth McGowan, Sulekha Rajagopalan, Alasdair Hunter, Jacques L. Michaud, Kate Gibson, Jeremy Robertson, Fiona Vaz, Stephen Abbs, Simon T. Holden

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 422 KB

english, 2011

14

Plasmacytoid dendritic cells in inflamed muscle of patients with juvenile dermatomyositis

Consuelo M. López de Padilla, Abbe N. Vallejo, Kelly T. McNallan, Richard Vehe, Stephen A. Smith, Allan B. Dietz, Stanimir Vuk-Pavlovic, Ann M. Reed

Journal:

Arthritis & Rheumatism

Year:

2007

Language:

english

File:

PDF, 833 KB

english, 2007

15

Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein

Kristin Becker, Stephanie A. Robb, Zandra Hatton, Shu Ching Yau, Stephen Abbs, Roland G. Roberts

Journal:

Year:

2003

Language:

english

File:

PDF, 150 KB

english, 2003

16

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

17

A novel and rapid mutation screening approach facilitates prenatal diagnosis

Emma Ashton, Zandra Deans, Shu C. Yau, Stephen Abbs

Journal:

Prenatal Diagnosis

Year:

2005

Language:

english

File:

PDF, 80 KB

english, 2005

18

Determination of the genetic status of cleavage-stage human embryos by microsatellite marker analysis following multiple displacement amplification

Pamela J. Renwick, Cathryn M. Lewis, Stephen Abbs, Caroline Mackie Ogilvie

Journal:

Prenatal Diagnosis

Year:

2007

Language:

english

File:

PDF, 1.76 MB

english, 2007

19

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

Anthonie J. Essen, Stephen Abbs, Montserrat Baiget, Egbert Bakker, Catherine Boileau, Christine Broeckhoven, Kate Bushby, Angus Clarke, Mireille Claustres, Angela E. Covone, Maurizio Ferrari, Alessand

Journal:

Year:

1992

Language:

english

File:

PDF, 903 KB

english, 1992

20

Application of the Advanced Communications Technology Satellite to teleradiology and real-time compressed ultrasound video telemedicine

Brent K. Stewart, Stephen J. Carter, Jay N. Cook, Brian S. Abbe, Deborah Pinck, Alan H. Rowberg

Journal:

Journal of Digital Imaging

Year:

1999

Language:

english

File:

PDF, 1.45 MB

english, 1999

21

Low Prevalence of BRCA1 Exon Rearrangements in Familial and Young Sporadic Breast Cancer Patients

David Ellis, Yogen Patel, Shu C. Yau, Shirley V. Hodgson, Stephen J. Abbs

Journal:

Familial Cancer

Year:

2006

Language:

english

File:

PDF, 86 KB

english, 2006

22

Increased incorporation of dietary plant sterols and cholesterol correlates with decreased expression of hepatic and intestinal Abcg5 and Abcg8 in diabetic BB rats

Kylie A. Scoggan, Heidi Gruber, Qixuan Chen, Louise J. Plouffe, Jaclyn M. Lefebvre, Bingtuan Wang, Jesse Bertinato, Mary R. L'Abbé, Stephen Hayward, W.M. Nimal Ratnayake

Journal:

The Journal of Nutritional Biochemistry

Year:

2009

Language:

english

File:

PDF, 198 KB

english, 2009

23

A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity

Cecilia Jimenez-Mallebrera, Silvia Torelli, Lucy Feng, Jihee Kim, Caroline Godfrey, Emma Clement, Rachael Mein, Stephen Abbs, Susan C. Brown, Kevin P. Campbell, Stephan Kröger, Beril Talim, Haluk Topa

Journal:

Brain Pathology

Year:

2009

Language:

english

File:

PDF, 1.56 MB

english, 2009

24

Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy

Taylor, Joanne E, Thomas, Neil H, Lewis, Cathryn M, Abbs, Stephen J, Rodrigues, Nanda R, Davies, Kay E, Mathew, Christopher G

Journal:

European Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 149 KB

english, 1998

25

Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene

Ashton, Emma J, Yau, Shu C, Deans, Zandra C, Abbs, Stephen J

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 129 KB

english, 2007

26

RECOVERY FROM DAMAGE INDUCED BY ACRIDINE PLUS NEAR-ULTRAVIOLET LIGHT IN ESCHERICHIA COLI

Stephen Wagner, Abbe Feldman, Wallace Snipes

Journal:

Photochemistry and Photobiology

Year:

1982

Language:

english

File:

PDF, 766 KB

english, 1982

27

Molecular deletions in the Duchenne/Becker muscular dystrophy gene

Kevin A. Hart, Stephen Abbs, Martin C. Wapenaar, Charlotte G. Cole, Shirley V. Hodgson, Martin Bobrow

Journal:

Clinical Genetics

Year:

1989

Language:

english

File:

PDF, 639 KB

english, 1989

28

Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

Mariz Vainzof, Pascale Richard, Ralf Herrmann, Cecilia Jimenez-Mallebrera, Beril Talim, Lydia U. Yamamoto, Céline Ledeuil, Rachael Mein, Stephen Abbs, Martin Brockington, Norma B. Romero, Mayana Zatz,

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 204 KB

english, 2005

29

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

Heinz Jungbluth, Suzanne Lillis, Haiyan Zhou, Stephen Abbs, Caroline Sewry, Michael Swash, Francesco Muntoni

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 338 KB

english, 2009

30

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

Heinz Jungbluth, Tom Cullup, Suzanne Lillis, Haiyan Zhou, Stephen Abbs, Caroline Sewry, Francesco Muntoni

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 303 KB

english, 2010

31

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

Stephen Abbs, Sylvie Tuffery-Giraud, Egbert Bakker, Alessandra Ferlini, Thomas Sejersen, Clemens R. Mueller

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 198 KB

english, 2010

32

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Haiyan Zhou, Suzanne Lillis, Ryan E. Loy, Farshid Ghassemi, Michael R. Rose, Fiona Norwood, Kerry Mills, Safa Al-Sarraj, Russell J.M. Lane, Lucy Feng, Emma Matthews, Caroline A. Sewry, Stephen Abbs, S

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 924 KB

english, 2010

33

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

Stephanie A. Robb, Caroline A. Sewry, James J. Dowling, Lucy Feng, Tom Cullup, Sue Lillis, Stephen Abbs, Melissa M. Lees, Jocelyn Laporte, Adnan Y. Manzur, Ravi K. Knight, Kerry R. Mills, Michael G. P

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 1.56 MB

english, 2011

34

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

James J. Dowling, Suzanne Lillis, Kimberley Amburgey, Haiyan Zhou, Safa Al-Sarraj, Stefan J.A. Buk, Elizabeth Wraige, Gabby Chow, Stephen Abbs, Steven Leber, Katherine Lachlan, Diana Baralle, Alexandr

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 714 KB

english, 2011

35

Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis

Kathy Mann, Susan P Fox, Stephen J Abbs, Shu Ching Yau, Paul N Scriven, Zoe Docherty, Caroline Mackie Ogilvie

Journal:

Year:

2001

Language:

english

File:

PDF, 107 KB

english, 2001

36

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

Sebahattin Cirak, Virginia Arechavala-Gomeza, Michela Guglieri, Lucy Feng, Silvia Torelli, Karen Anthony, Stephen Abbs, Maria Elena Garralda, John Bourke, Dominic J Wells, George Dickson, Matthew JA W

Journal:

Year:

2011

Language:

english

File:

PDF, 1.06 MB

english, 2011

37

Exon Array CGH: Detection of Copy-Number Changes at the Resolution of Individual Exons in the Human Genome

Pawandeep Dhami, Alison J. Coffey, Stephen Abbs, Joris R. Vermeesch, Jan P. Dumanski, Karen J. Woodward, Robert M. Andrews, Cordelia Langford, David Vetrie

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 875 KB

english, 2005

38

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

39

Proof of principle and first cases using preimplantation genetic haplotyping – a paradigm shift for embryo diagnosis

Pamela J Renwick, Jane Trussler, Elham Ostad-Saffari, Hiva Fassihi, Cheryl Black, Peter Braude, Caroline Mackie Ogilvie, Stephen Abbs

Journal:

Reproductive BioMedicine Online

Year:

2006

Language:

english

File:

PDF, 842 KB

english, 2006

40

Sparing effects of selenium and ascorbic acid on vitamin C and E in guinea pig tissues

Jesse Bertinato, Nick Hidiroglou, Robert Peace, Kevin A Cockell, Keith D Trick, Penny Jee, Alex Giroux, Réné Madère, Giuseppe Bonacci, Monica Iskandar, Stephen Hayward, Nicholas Giles, Mary R L'Abbé

Journal:

Nutrition Journal

Year:

2007

Language:

english

File:

PDF, 555 KB

english, 2007

41

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

Dlamini, Nomazulu, Josifova, Dragana J., Paine, Simon M.L., Wraige, Elizabeth, Pitt, Matthew, Murphy, Amanda J., King, Andrew, Buk, Stefan, Smith, Frances, Abbs, Stephen, Sewry, Caroline, Jacques, Tho

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 1.47 MB

english, 2013

42

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype

Quinlivan, Ros, Mitsuahashi, Satomi, Sewry, Caroline, Cirak, Sebahattin, Aoyama, Chieko, Mooore, David, Abbs, Stephen, Robb, Stephanie, Newton, Tina, Moss, Celia, Birchall, Daniel, Sugimoto, Hiroyuki,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 1.44 MB

english, 2013

43

Report on the 16th ENMC workshop—Carrier diagnosis of Duchenne and Becker muscular dystrophy

Abbs, Stephen, Bobrow, Martin

Journal:

Neuromuscular Disorders

Year:

1993

Language:

english

File:

PDF, 132 KB

english, 1993

44

Localization of the gene for classic Alport syndrome

Flinter, Frances A., Abbs, Stephen, Bobrow, Martin

Journal:

Year:

1989

Language:

english

File:

PDF, 393 KB

english, 1989

45

Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy

Plumb, Lucy A, Marlais, Matko, Bierzynska, Agnieszka, Martin, Howard, Brugger, Kim, Abbs, Stephen, Saleem, Moin A

Journal:

Year:

2014

Language:

english

File:

PDF, 207 KB

english, 2014

46

Panic Disorder and Agoraphobia in Consecutively Referred Children and Adolescents

BIEDERMAN, JOSEPH, FARAONE, STEPHEN V., MARRS, ABBE, MOORE, PHOEBE, GARCIA, JENNIFER, ABLON, STUART, MICK, ERIC, GERSHON, JONATHAN, KEARNS, M. ELYCE

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

1997

Language:

english

File:

PDF, 7.23 MB

english, 1997

47

Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene

Abbs, Stephen, Roberts, Roland G., Mathew, Christopher G., Bentley, David R., Bobrow, Martin

Journal:

Year:

1990

Language:

english

File:

PDF, 537 KB

english, 1990

48

Attention-Deficit Hyperactivity Disorder and Juvenile Mania: An Overlooked Comorbidity?

BIEDERMAN, JOSEPH, FARAONE, STEPHEN, MICK, ERIC, WOZNIAK, JANET, CHEN, LISA, OUELLETTE, CHERYL, MARRS, ABBE, MOORE, PHOEBE, GARCIA, JENNIFER, MENNIN, DOUGLAS, LELON, ELISE

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

1996

Language:

english

File:

PDF, 5.34 MB

english, 1996

49

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

Scoto, Mariacristina, Cullup, Thomas, Cirak, Sebahattin, Yau, Shu, Manzur, Adnan Y, Feng, Lucy, Jacques, Thomas S, Anderson, Glenn, Abbs, Stephen, Sewry, Caroline, Jungbluth, Heinz, Muntoni, Francesco

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 842 KB

english, 2013

50

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