J. Clayton-smith: search on Z-Library

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1

Angelman syndrome 2005: Updated consensus for diagnostic criteria

Charles A. Williams, Arthur L. Beaudet, Jill Clayton-Smith, Joan H. Knoll, Martin Kyllerman, Laura A. Laan, R. Ellen Magenis, Ann Moncla, Albert A. Schinzel, Jane A. Summers, Joseph Wagstaff

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 90 KB

english, 2006

2

Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

A. Orrico, L. Galli, L. Faivre, J. Clayton-Smith, S.M. Azzarello-Burri, J.M. Hertz, S. Jacquemont, R. Taurisano, I. Arroyo Carrera, E. Tarantino, K. Devriendt, D. Melis, T. Thelle, U. Meinhardt, V. So

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 126 KB

english, 2010

3

A Comparison of the Efficacy and Adverse Effects of Double-Lumen Endobronchial Tubes and Bronchial Blockers in Thoracic Surgery: A Systematic Review and Meta-analysis of Randomized Controlled Trials

Clayton-Smith, Ana, Bennett, Kyle, Alston, Robin Peter, Adams, George, Brown, Greg, Hawthorne, Timothy, Hu, May, Sinclair, Angus, Tan, Jay

Journal:

Journal of Cardiothoracic and Vascular Anesthesia

Year:

2014

Language:

english

File:

PDF, 1.70 MB

english, 2014

4

Reconstruction techniques and clinical results of patellar tendon ruptures: Evidence today

Gilmore, Jack H., Clayton-Smith, Zoë J., Aguilar, Marc, Pneumaticos, Spiros G., Giannoudis, Peter V.

Journal:

Year:

2015

Language:

english

File:

PDF, 464 KB

english, 2015

5

Effects of breastfeeding in children of women taking antiepileptic drugs

Meador, K. J., Baker, G. A., Browning, N., Clayton-Smith, J., Combs-Cantrell, D. T., Cohen, M., Kalayjian, L. A., Kanner, A., Liporace, J. D., Pennell, P. B., Privitera, M., Loring, D. W.

Journal:

Year:

2010

Language:

english

File:

PDF, 334 KB

english, 2010

6

A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

Siddharth Banka, Gregory J. Fitzgibbon, Lorraine Gaunt, Wendy J. Rankin, Jill Clayton-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 165 KB

english, 2011

7

The ARID1B phenotype: What we have learned so far

Santen, Gijs W.E., Clayton-Smith, Jill

Journal:

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

Year:

2014

Language:

english

File:

PDF, 1.87 MB

english, 2014

8

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

Lehalle, DaphnÃ©, Vabres, Pierre, Sorlin, Arthur, Bierhals, Tatjana, Avila, Magali, Carmignac, Virginie, Chevarin, Martin, Torti, Erin, Abe, Yuichi, Bartolomaeus, Tobias, Clayton-Smith, Jill, CognÃ©,

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 819 KB

2020

9

Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing

Gillespie, Rachel L., O’Sullivan, James, Ashworth, Jane, Bhaskar, Sanjeev, Williams, Simon, Biswas, Susmito, Kehdi, Elias, Ramsden, Simon C., Clayton-Smith, Jill, Black, Graeme C., Lloyd, I. Christoph

Journal:

Year:

2014

Language:

english

File:

PDF, 1.03 MB

english, 2014

10

Large, rare chromosomal deletions associated with severe early-onset obesity

Bochukova, Elena G., Huang, Ni, Keogh, Julia, Henning, Elana, Purmann, Carolin, Blaszczyk, Kasia, Saeed, Sadia, Hamilton-Shield, Julian, Clayton-Smith, Jill, O’Rahilly, Stephen, Hurles, Matthew E., Fa

Journal:

Year:

2010

Language:

english

File:

PDF, 456 KB

english, 2010

11

Response to ‘Data interpretation on the use of Double Lumen Tube (DLT) versus Bronchial Blocker (BB) for one-lung ventilation’

Clayton-Smith, Ana, Hawthorne, Timothy

Journal:

Journal of Cardiothoracic and Vascular Anesthesia

Year:

2015

Language:

english

File:

PDF, 472 KB

english, 2015

12

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

Vasileiou, Georgia, Vergarajauregui, Silvia, Endele, Sabine, Popp, Bernt, Büttner, Christian, Ekici, Arif B., Gerard, Marion, Bramswig, Nuria C., Albrecht, Beate, Clayton-Smith, Jill, Morton, Jenny, T

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.05 MB

english, 2018

13

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

Yilmaz, Rüstem, Beleza-Meireles, Ana, Price, Susan, Oliveira, Renata, Kubisch, Christian, Clayton-Smith, Jill, Szakszon, Katalin, Borck, Guntram

Journal:

American Journal of Medical Genetics Part A

Year:

2015

File:

PDF, 1.35 MB

2015

14

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

Zweier, C, Sticht, H, Bijlsma, E K, Clayton-Smith, J, Boonen, S E, Fryer, A, Greally, M T, Hoffmann, L, den Hollander, N S, Jongmans, M, Kant, S G, King, M D, Lynch, S A, McKee, S, Midro, A T, Park, S

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 1.58 MB

english, 2008

15

Mowat-Wilson syndrome: growth charts

Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P., Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocc

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 2.28 MB

2020

16

Spatial Variation of the Physical and Biomechanical Properties Within an Equestrian Arena Surface

Northrop, A.J., Hobbs, S.J., Holt, D., Clayton-Smith, E., Martin, J.H.

Journal:

Procedia Engineering

Year:

2016

Language:

english

File:

PDF, 258 KB

english, 2016

17

Pregnancy with epilepsy: Obstetric and neonatal outcome of a controlled study

G. Mawer, M. Briggs, G.A. Baker, R. Bromley, H. Coyle, J. Eatock, L. Kerr, U. Kini, L. Kuzmyshcheva, S.B. Lucas, L. Wyatt, J. Clayton-Smith

Journal:

Year:

2010

Language:

english

File:

PDF, 161 KB

english, 2010

18

The key anatomical landmarks for retrograde identification and dissection of the facial nerve in parotid surgery

J. McCaul, Z. Clayton-Smith, P. McConnell, S. Sood

Journal:

British Journal of Oral and Maxillofacial Surgery

Year:

2012

Language:

english

File:

PDF, 44 KB

english, 2012

19

AUTISM SPECTRUM DISORDERS FOLLOWING IN UTERO EXPOSURE TO ANTIEPILEPTIC DRUGS

Bromley, R. L., Mawer, G., Clayton-Smith, J., Baker, G. A.

Journal:

Year:

2008

Language:

english

File:

PDF, 95 KB

english, 2008

20

Fine-tuning risk assessment with antiepileptic drug use in pregnancy

Mawer, G., Bromley, R., Baker, G. A., Meador, K. J., Clayton-Smith, J.

Journal:

Year:

2015

Language:

english

File:

PDF, 174 KB

english, 2015

21

Fetal antiepileptic drug exposure and learning and memory functioning at 6 years of age: The NEAD prospective observational study

Cohen, Morris J., Meador, Kimford J., May, Ryan, Loblein, Hayley, Conrad, Thomas, Baker, Gus A., Bromley, Rebecca L., Clayton-Smith, Jill, Kalayjian, Laura A., Kanner, Andres, Liporace, Joyce D., Penn

Journal:

Epilepsy & Behavior

Year:

2019

Language:

english

File:

PDF, 803 KB

english, 2019

22

DYSCERNE: a European Network of Centres of Expertise for Dysmorphology

Krystyna Chrzanowska, Jill Clayton-Smith, Ruth Day…

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 181 KB

english, 2010

23

Stem cell stroke trial brings hopes and challenges

Malcolm, S., Clayton-Smith, J., Nichols, M., Pembrey, M.E., Armour, J.A.L., Jeffreys, A.J., Robb, S., Webb, T.

Journal:

Year:

2009

Language:

english

File:

PDF, 95 KB

english, 2009

24

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

I. Balikova, A-E. Lehesjoki, T.J.L. de Ravel, B. Thienpont, K.E. Chandler, J. Clayton-Smith, A-L. Träskelin, J-P. Fryns, J.R. Vermeesch

Journal:

Year:

2009

Language:

english

File:

PDF, 254 KB

english, 2009

25

Angelman syndrome: Consensus for diagnostic criteria

Dr. Charles A. Williams, Harry Angelman, Jill Clayton-Smith, Daniel J. Driscoll, Jill E. Hendrickson, Joan H. M. Knoll, R. Ellen Magenis, Albert Schinzel, Joseph Wagstaff, Elaine M. Whidden, Roberto T

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 210 KB

english, 1995

26

Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial angelman syndrome

J Clayton-Smith, T Webb, S A Robb, I Dijkstra, P Willems, S Lam, X-J Cheng, M E Pembrey, Dr. S Malcolm

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 426 KB

english, 1992

27

Unexpected death and critical illness in Prader–Willi syndrome: Report of ten individuals

David A. Stevenson, Theresa M. Anaya, Jill Clayton-Smith, Bryan D. Hall, Margot I. Van Allen, Roberto T. Zori, Elaine H. Zackai, Gary Frank, Carol L. Clericuzio

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 85 KB

english, 2004

28

Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

Matteo M. Guerrini, Cristina Sobacchi, Barbara Cassani, Mario Abinun, Sara S. Kilic, Alessandra Pangrazio, Daniele Moratto, Evelina Mazzolari, Jill Clayton-Smith, Paul Orchard, Fraser P. Coxon, Miep H

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.80 MB

english, 2008

29

Molecular mechanisms in Angelman syndrome: a survey of 93 patients.

Chan, C T, Clayton-Smith, J, Cheng, X J, Buxton, J, Webb, T, Pembrey, M E, Malcolm, S

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.44 MB

english, 1993

30

Congenital cataracts in females caused by BCOR mutations; report of six further families Demonstrating clinical variability and diverse genetic mechanisms

Redwood, A., Douzgou, S., Waller, S., Ramsden, S., Roberts, A., Bonin, H., Lloyd, I.C., Ashworth, J., Black, G.C.M., Clayton-Smith, J.

Journal:

European Journal of Medical Genetics

Year:

2019

File:

PDF, 918 KB

2019

31

Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero

Usha Kini, Rebecca Lee, Alison Jones, Sarah Smith, Simon Ramsden, Alan Fryer, Jill Clayton-Smith

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 142 KB

english, 2007

32

Fetal antiepileptic drug exposure: Adaptive and emotional/behavioral functioning at age 6years

Cohen, Morris J., Meador, Kimford J., Browning, Nancy, May, Ryan, Baker, Gus A., Clayton-Smith, Jill, Kalayjian, Laura A., Kanner, Andres, Liporace, Joyce D., Pennell, Page B., Privitera, Michael, Lor

Journal:

Epilepsy & Behavior

Year:

2013

Language:

english

File:

PDF, 535 KB

english, 2013

33

Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies

Douzgou, S., Breen, C., Crow, Y. J., Chandler, K., Metcalfe, K., Jones, E., Kerr, B., Clayton-Smith, J.

Journal:

Archives of Disease in Childhood

Year:

2012

Language:

english

File:

PDF, 198 KB

english, 2012

34

Medical genetics: advances in brief: Mitochondrial DNA rearrangements with onset as chronic diarrhoea with villous atrophy

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 308 KB

english, 1994

35

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2

Sergouniotis, Panagiotis I, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, Black, Graeme C, Lovell, Simon C, Whitby, David J, Newman, William G, Clayton-Smith, Jill

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 508 KB

english, 2015

36

Osteocraniostenosis: a further case report documenting the antenatal findings

Smith, Audrey, Mehta, Sarju, Bullen, Philip, Clayton-Smith, Jill

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 261 KB

english, 2007

37

Clinical and genetic aspects of KBG syndrome

Low, Karen, Ashraf, Tazeen, Canham, Natalie, Clayton-Smith, Jill, Deshpande, Charu, Donaldson, Alan, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fryer, Alan, Gibson, Kate, Hayes, Ian, Hills, Al

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.32 MB

english, 2016

38

Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature

Le Fevre, Anna, Beygo, Jasmin, Silveira, Cheryl, Kamien, Benjamin, Clayton-Smith, Jill, Colley, Alison, Buiting, Karin, Dudding-Byth, Tracy

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 266 KB

english, 2017

39

Dysmorphology at a distance: results of a web-based diagnostic service

Douzgou, S, Clayton-Smith, J, Gardner, S, Day, R, Griffiths, P, Strong, K, Amiel, J, Baraitser, M, Brueton, L, Brunner, H, Chrzanowska, K, Dallapiccola, B, del Campo Casanelles, M, Devriendt, K, Donna

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 298 KB

english, 2014

40

Genetic counselling and parental decisions following antenatal diagnosis of sex chromosome aneuploidies

Clayton-smith, Jill, Andrews, T., Donnai, Dian

Journal:

Journal of Obstetrics & Gynaecology

Year:

1989

Language:

english

File:

PDF, 227 KB

english, 1989

41

Medical genetics: advances in brief: Partial deficiency of surfactant protein B in an infant with chronic lung disease

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 282 KB

english, 1996

42

Neuropsychological Assessment of a Group of UK Patients with Cohen Syndrome

K. E. Chandler, M. Moffett, J. Clayton-smith, G. A. Baker

Year:

2003

Language:

english

File:

PDF, 432 KB

english, 2003

43

Brachydactyly type B

Slavotinek, Anne, Clayton-Smith, Jill

Journal:

Clinical Dysmorphology

Year:

1999

File:

PDF, 3.92 MB

1999

44

Genitourinary malformations

Hyder, Zerin, Beale, Victoria, O’Connor, Ruth, Clayton-Smith, Jill

Journal:

Clinical Dysmorphology

Year:

2017

Language:

english

File:

PDF, 168 KB

english, 2017

45

Congenital cataracts in females caused by BCOR mutations; report of six further families Demonstrating clinical variability and diverse genetic mechanisms

Redwood, A., Douzgou, S., Waller, S., Ramsden, S., Roberts, A., Bonin, H., Lloyd, I.C., Ashworth, J., Black, G.C.M., Clayton-Smith, J.

Journal:

European Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 918 KB

english, 2019

46

Does a Jewish type of Cohen syndrome truly exist?

K.E. Chandler, Jill Clayton-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 34 KB

english, 2002

47

Angelman syndrome associated with a maternal 15q11–13 deletion of less than 200 kb

Buxton, Jessica L., Chan, Chi-tsung J., Gilbert, Helen, Clayton-Smith, Jill, Burn, John, Pembrey, Marcus, Malcolm, Susan

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.90 MB

english, 1994

48

Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A

Ghosh, Arunabha, Urquhart, Jill, Daly, Sarah, Ferguson, Anne, Scotcher, Diana, Morris, Andrew A. M., Clayton-Smith, Jill

Journal:

Journal of Child Neurology

Year:

2017

Language:

english

File:

PDF, 290 KB

english, 2017

49

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Reijnders, Margot R.F., Ansor, Nurhuda M., Kousi, Maria, Yue, Wyatt W., Tan, Perciliz L., Clarkson, Katie, Clayton-Smith, Jill, Corning, Ken, Jones, Julie R., Lam, Wayne W.K., Mancini, Grazia M.S., Ma

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.05 MB

english, 2017

50

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

Nicola, Pantelis, Blackburn, Patrick R., Rasmussen, Kristen J., Bertsch, Nicole L., Klee, Eric W., Hasadsri, Linda, Pichurin, Pavel N., Rankin, Julia, Raymond, F. Lucy, Clayton-Smith, Jill

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.49 MB

english, 2019

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