Oliver Quarrell: search on Z-Library

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1

Baller Gerold syndrome and Fanconi anaemia

Quarrell, Oliver W.J., Maltby, Edna L., Harrison, Christine J.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 19 KB

english, 1998

2

In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome

Bellais, Samuel, Le Goff, Carine, Dagoneau, Nathalie, Munnich, Arnold, Quarrell, Oliver

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 160 KB

english, 2009

3

Responding to the increased genetic risk associated with customary consanguineous marriage among minority ethnic populations: lessons from local innovations in England

Salway, Sarah, Ali, Parveen, Ratcliffe, Giles, Such, Elizabeth, Khan, Nasaim, Kingston, Helen, Quarrell, Oliver

Journal:

Journal of Community Genetics

Year:

2016

Language:

english

File:

PDF, 390 KB

english, 2016

4

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia

Rautengarten, Carsten, Quarrell, Oliver W, Stals, Karen, Caswell, Richard, De Franco, Elisa, Baple, Emma, Burgess, Nadia, Jokhi, Roobin, Heazlewood, Joshua L, Offiah, Amaka C, Ebert, Berit, Ellard, Si

Journal:

Human Molecular Genetics

Year:

2019

Language:

english

File:

PDF, 758 KB

english, 2019

5

J2âPredictive testing for huntingtonâs disease (HD) on those under 18 years: the UK experience 1994â2015

Quarrell, Oliver, Cann, Rachael, Fryer, Alan, Jenkins, Sian, OâDriscoll, Mary, Lahiri, Nayana, Compton, Celia, Musgrave, Hannah, Miedzybrodzka, Zosia, Clarke, Angus, Macleod, Rhona

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2016

File:

PDF, 54 KB

2016

6

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Jones, Gabriela E, Ostergaard, Pia, Moore, Anthony T, Connell, Fiona C, Williams, Denise, Quarrell, Oliver, Brady, Angela F, Spier, Isabel, Hazan, Filiz, Moldovan, Oana, Wieczorek, Dagmar, Mikat, Barb

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 976 KB

english, 2014

7

Schinzel-Giedion syndrome: Evidence for a neurodegenerative process

Shah, Ashish M., Smith, Michael F., Griffiths, Paul D., Quarrell, Oliver W.J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 257 KB

english, 1999

8

A microdeletion proximal of the critical deletion region is associated with mild Wolf–Hirschhorn syndrome

Femke Hannes, Peter Hammond, Oliver Quarrell, Jean-Pierre Fryns, Koenraad Devriendt, Joris R. Vermeesch

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 861 KB

english, 2012

9

Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions

Wright, Tracy J., Clemens, Michele, Quarrell, Oliver, Altherr, Michael R.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 140 KB

english, 1998

10

The global prevalence of Huntington's disease: a systematic review and discussion

Baig, Sheharyar Sajjad, Strong, Mark, Quarrell, Oliver WJ

Journal:

Neurodegenerative Disease Management

Year:

2016

Language:

english

File:

PDF, 1.97 MB

english, 2016

11

I1 The prevalence of huntington’s disease (HD): a systematic review of reports published since 1993

Baig, Sheharyar, Strong, Mark, Quarrell, Oliver

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2016

Language:

english

File:

PDF, 68 KB

english, 2016

12

Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease ?

Quarrell, Oliver W. J., Nance, Martha A., Nopoulos, Peg, Reilmann, Ralf, Oosterloo, Mayke, Tabrizi, Sarah J., Furby, Hannah, Saft, Carsten, Roos, Raymund A. C., Squitieri, Ferdinando, Landwehrmeyer, G

Journal:

Movement Disorders

Year:

2019

Language:

english

File:

PDF, 174 KB

english, 2019

13

Seizure frequency in adults with Wolf–Hirschhorn syndrome

Jeanie C. Worthington, Alan S. Rigby, Oliver W. Quarrell

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 84 KB

english, 2008

14

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

Mehmet Bakircioglu, Ofélia P. Carvalho, Maryam Khurshid, James J. Cox, Beyhan Tuysuz, Tanyeri Barak, Saliha Yilmaz, Okay Caglayan, Alp Dincer, Adeline K. Nicholas, Oliver Quarrell, Kelly Springell, Gu

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.79 MB

english, 2011

15

Wolf–Hirschhorn syndrome

Searle, Claire J., Shearing, Emma, Quarrell, Oliver W.

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 304 KB

english, 2013

16

Bilateral Absence of Adrenal Glands: A Case Series that Expands the Spectrum of Associations and Highlights the Difficulties in Prenatal Diagnosis

Sethuraman, Chitralekha, Parker, Michael J, Quarrel, Oliver, Rutter, Susan, de Krijger, Ronald R, Drut, Ricardo, Cohen, Marta C.

Journal:

Fetal and Pediatric Pathology

Year:

2011

Language:

english

File:

PDF, 720 KB

english, 2011

17

Discrepancies in reporting the CAG repeat lengths for Huntington's disease

Quarrell, Oliver W, Handley, Olivia, O'Donovan, Kirsty, Dumoulin, Christine, Ramos-Arroyo, Maria, Biunno, Ida, Bauer, Peter, Kline, Margaret, Landwehrmeyer, G Bernhard

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 354 KB

english, 2012

18

Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences

Quarrell, Oliver W., Clarke, Angus J., Compton, Cecilia, de Die-Smulders, Christine E.M., Fryer, Alan, Jenkins, Sian, Lahiri, Nayana, MacLeod, Rhona, Miedzybrodzka, Zosia, Morrison, Patrick J., Musgra

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2017

Language:

english

File:

PDF, 250 KB

english, 2017

19

22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

Baig, Sheharyar S, Strong, Mark, Rosser, Elisabeth, Taverner, Nicola V, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus, Craufurd, David, Quarrell, Oliver W

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 679 KB

english, 2016

20

K9 Families’ perspectives on the potential of a virtual MDT for patients with JHD

Cann, Rachael, Quarrell, Oliver, Curtis, Penny

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2016

Language:

english

File:

PDF, 51 KB

english, 2016

21

Prader???Willi and Klinefelter syndrome: a coincidence or not?

Vasudevan, Pradeep C., Quarrell, Oliver W.J.

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 85 KB

english, 2007

22

Reply to the letter of Joenje et al. titled ?confounding factors in the diagnosis of Fanconi anaemia.?

Quarrell, Oliver W.J., Maltby, Edna L., Harrison, Christine J.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 23 KB

english, 1998

23

Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa

Hale, Gordon I, Cohen, Marta C, Quarrell, Oliver W, McGrath, John A, Messenger, Andrew G

Journal:

Pediatric and Developmental Pathology

Year:

2018

Language:

english

File:

PDF, 512 KB

english, 2018

24

Juvenile Huntington's disease: Does a dosage-effect pathogenic mechanism differ from the classical adult disease?

Ferdinando Squitieri, Luigi Frati, Andrea Ciarmiello, Secondo Lastoria, Oliver Quarrell

Journal:

Mechanisms of Ageing and Development

Year:

2006

Language:

english

File:

PDF, 236 KB

english, 2006

25

J1 Predictive testing for huntington’s disease (HD) in the UK 1994 – 2014: changes in age distribution and outcome of results

Quarrell, Oliver, Baig, Sheharyar, Strong, Mark, Rosser, Elisabeth, Taverner, Nicola, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus, Craufurd, David

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2016

Language:

english

File:

PDF, 68 KB

english, 2016

26

A study of Wilson disease mutations in Britain

Diana Curtis, Miranda Durkie, Pauline Balac (Morris), Donna Sheard, Anne Goodeve, Ian Peake, Oliver Quarrell, Stuart Tanner

Journal:

Year:

1999

Language:

english

File:

PDF, 253 KB

english, 1999

27

The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature

Pradeep C. Vasudevan, Marta C. Cohen, Elspeth H. Whitby, Dilly O. C. Anumba, Oliver W. J. Quarrell

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 339 KB

english, 2006

28

Mosaic Chromosome 6 Trisomy in an Epidermal Nevus

Glenda J. Sobey, Oliver W. Quarrell, Steven Williams, Helen M. McGrath

Journal:

Pediatric Dermatology

Year:

2007

Language:

english

File:

PDF, 506 KB

english, 2007

29

A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington's disease

Moser, Amelia D, Epping, Eric, Espe-Pfeifer, Patricia, Martin, Erin, Zhorne, Leah, Mathews, Katherine, Nance, Martha, Hudgell, Denise, Quarrell, Oliver, Nopoulos, Peg

Journal:

Neurodegenerative Disease Management

Year:

2017

Language:

english

File:

PDF, 542 KB

english, 2017

30

A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice

Wadrup, Felicity, Holden, Simon, MacLeod, Rhona, Miedzybrodzka, Zosia, Németh, Andrea H., Owens, Shan, Pasalodos, Sara, Quarrell, Oliver, Clarke, Angus J.

Journal:

European Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 554 KB

english, 2019

31

Letter in Response to Tibben et al., Risk Assessment for Huntington’s Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners

Quarrell, Oliver W., Delatycki, Martin B., Clarke, Angus J., Lahiri, Nayana, Craufurd, David, Miedzybrodzka, Zosia, MacLeod, Rhona, Renwick, Pamela, Tomlinson, Charlotte

Journal:

Journal of Huntington's Disease

Year:

2019

Language:

english

File:

PDF, 501 KB

english, 2019

32

Pallister-Killian mosaic syndrome with emphasis on the adult phenotype

Oliver W. J. Quarrell, Merryl A. Hamill, Helen E. Hughes, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 264 KB

english, 1988

33

Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes

Deepak Kamnasaran, Patricia C. M. O'Brien, Simone Schuffenhauer, Oliver Quarrell, James R. Lupski, Paola Grammatico, Malcolm A. Ferguson-Smith, Diane W. Cox

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 257 KB

english, 2001

34

A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism

Race, Hermione, Hall, Christine M., Harrison, Mike G., Quarrell, Oliver W., Wakeling, Emma L.

Journal:

Clinical Dysmorphology

Year:

2010

Language:

english

File:

PDF, 193 KB

english, 2010

35

Glutamine repeats and neurodegenerative diseases: molecular aspects

Quarrell, Oliver

Journal:

Year:

2001

Language:

english

File:

PDF, 13 KB

english, 2001

36

[BMJ Publishing Group Ltd EHDN 2018 Plenary Meeting, Vienna, Austria, Programme and Abstracts - ()] Clinical studies - F19âThe cost of juvenile onset huntingdonâs disease (JOHD) in the uk

Young, Tracey, Quarrell, Oliver

Year:

2018

File:

PDF, 52 KB

2018

37

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia

Vasudevan, Pradeep C, Twigg, Stephen R F, Mulliken, John B, Cook, Jackie A, Quarrell, Oliver W J, Wilkie, Andrew O M

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 179 KB

english, 2006

38

Managing juvenile Huntington’s disease

Quarrell, Oliver WJ, Nance, Martha A, Nopoulos, Peggy, Paulsen, Jane S, Smith, Jonathan A, Squitieri, Ferdinando

Journal:

Neurodegenerative Disease Management

Year:

2013

Language:

english

File:

PDF, 1.22 MB

english, 2013

39

22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

Baig, Sheharyar S, Strong, Mark, Rosser, Elisabeth, Taverner, Nicola V, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus, Craufurd, David, Disease Prediction Consortium, UK Huntington's, Quarrell, Oliv

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 53 KB

english, 2016

40

An integrated microcomputer system to maintain a genetic register for Huntington disease

Mansoor Sarfarazi, Oliver W. J. Quarrell, Geoffrey Wolak, Peter S. Harper, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 393 KB

english, 1987

41

Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions

Femke Hannes, Jeroen Van Houdt, Oliver W. Quarrell, Martin Poot, Ron Hochstenbach, Jean-Pierre Fryns, Joris R. Vermeesch

Journal:

Year:

2010

Language:

english

File:

PDF, 380 KB

english, 2010

42

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

Yun Li, Kathrin Laue, Samia Temtamy, Mona Aglan, L. Damla Kotan, Gökhan Yigit, Husniye Canan, Barbara Pawlik, Gudrun Nürnberg, Emma L. Wakeling, Oliver W. Quarrell, Ingelore Baessmann, Matthew B. Lank

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.77 MB

english, 2010

43

Chorionic villus sampling for prenatal diagnosis in wales using DNA probes—5 years' experience

Meena Upadhyaya, Alan Fryer, Graham Foat, Denise Robinson, Oliver Quarrell, Adrian Roberts, P. S. Harper

Journal:

Prenatal Diagnosis

Year:

1990

Language:

english

File:

PDF, 653 KB

english, 1990

44

Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature

Vasudevan, Pradeep C., Garcia-Minaur, Sixto, Botella, Maria Pilar, Perez-Aytes, Antonio, Shannon, Nora L., Quarrell, Oliver W. J.

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 323 KB

english, 2005

45

Assessment of the Performance of a Modified Motor Scale as Applied to Juvenile Onset Huntington’s Disease

Horton, Mike C., Nopoulos, Peggy, Nance, Martha, Landwehrmyer, G. Bernhard, Barker, Roger A., Squitieri, Ferdinando, Burgunder, Jean-Marc, Quarrell, Oliver

Journal:

Journal of Huntington's Disease

Year:

2019

File:

PDF, 452 KB

2019

46

[BMJ Publishing Group Ltd EHDN 2018 Plenary Meeting, Vienna, Austria, Programme and Abstracts - ()] Clinical studies - F13âAssessment of the performance of a modified motor scale as applied to juvenile onset huntingtonâs disease

Horton, Mike C, Nopoulos, Peggy, Nance, Martha, Landwehrmeyer, G Bernhard, Barker, Roger A, Squitieri, Ferdinando, Burgunder, Jean-Marc, Quarrell, Oliver

Year:

2018

File:

PDF, 53 KB

2018

47

Opposite effects on facial morphology due to gene dosage sensitivity

Hammond, Peter, McKee, Shane, Suttie, Michael, Allanson, Judith, Cobben, Jan-Maarten, Maas, Saskia M., Quarrell, Oliver, Smith, Ann C. M., Lewis, Suzanne, Tassabehji, May, Sisodiya, Sanjay, Mattina, T

Journal:

Year:

2014

Language:

english

File:

PDF, 1.53 MB

english, 2014

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