Moira Blyth: search on Z-Library

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1

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Parry, David A., Martin, Carol-Anne, Greene, Philip, Marsh, Joseph A., Blyth, Moira, Cox, Helen, Donnelly, Deirdre, Greenhalgh, Lynn, Greville-Heygate, Stephanie, Harrison, Victoria, Lachlan, Katherin

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 4.90 MB

2020

2

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Akawi, Nadia, McRae, Jeremy, Ansari, Morad, Balasubramanian, Meena, Blyth, Moira, Brady, Angela F, Clayton, Stephen, Cole, Trevor, Deshpande, Charu, Fitzgerald, Tomas W, Foulds, Nicola, Francis, Richa

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 2.79 MB

english, 2015

3

Reviews

Jarrett, James L., Howell, D. A., Broadfoot, Patricia, Halls, W. D., Wilson, John, Skilbkck, Malcolm, Blyth, Joan E., Wilson, Moira, Crystal, David, Harding, Roy P., Tomiak, J. J., Kemp, John, Wilson,

Journal:

British Journal of Educational Studies

Year:

1983

Language:

english

File:

PDF, 1.72 MB

english, 1983

4

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

Breckpot, Jeroen, Anderlid, Britt-Marie, Alanay, Yasemin, Blyth, Moira, Brahimi, Afane, Duban-Bedu, Bénédicte, Gozé, Odile, Firth, Helen, Yakicier, Mustafa Cengiz, Hens, Greet, Rayyan, Maissa, Legius,

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 697 KB

english, 2015

5

Severe staphylococcal scalded skin syndrome in children

Moira Blyth, Catalina Estela, Amber E.R. Young

Journal:

Year:

2008

Language:

english

File:

PDF, 157 KB

english, 2008

6

Phenotypic features of diploid/triploid mosaicism in an adult

Jewell, Rosalyn, Birch, Alison, Roberts, Paul, Blyth, Moira

Journal:

Clinical Dysmorphology

Year:

2014

Language:

english

File:

PDF, 506 KB

english, 2014

7

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients

Gazdagh, Gabriella, Blyth, Moira, Scurr, Ingrid, Turnpenny, Peter D., Mehta, Sarju G., Armstrong, Ruth, McEntagart, Meriel, Newbury-Ecob, Ruth, Tobias, Edward S., Joss, Shelagh

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 969 KB

english, 2018

8

Severe Marfan syndrome due to FBN1 exon deletions

Moira Blyth, Nicola Foulds, Claire Turner, David Bunyan

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 110 KB

english, 2008

9

A novel 2.43 Mb deletion of 7q11.22–q11.23

Moira Blyth, Sarah Beal, Shuwen Huang, John Crolla, Nicola Foulds

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 193 KB

english, 2008

10

Amniotic bands in paternal half-siblings

Blyth, Moira, Lachlan, Katherine

Journal:

Clinical Dysmorphology

Year:

2010

Language:

english

File:

PDF, 139 KB

english, 2010

11

Satisfaction and continuity of care: staff views of care in a midwife-managed delivery unit

Vanora A. Hundley, Fiona M. Cruickshank, Joan M. Milne, Gordon D. Lang, Moira Turner, Dana Blyth, Cathryn M.A. Glazener, Jill Mollison

Journal:

Year:

1995

Language:

english

File:

PDF, 1.01 MB

english, 1995

12

A 2.3 Mb deletion of 17q24.2–q24.3 associated with ‘Carney Complex plus’

Moira Blyth, Shuwen Huang, Viv Maloney, John A. Crolla, I. Karen Temple

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 373 KB

english, 2008

13

RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations

Hartill, Verity L., Dillon, Mitchell W., Warren, Daniel J., Blyth, Moira

Journal:

Clinical Dysmorphology

Year:

2017

Language:

english

File:

PDF, 230 KB

english, 2017

14

Cerebral hypomyelination associated with biallelic variants of FIG. 4

Lenk, Guy M., Berry, Ian R., Stutterd, Chloe A., Blyth, Moira, Green, Lydia, Vadlamani, Gayatri, Warren, Daniel, Craven, Ian, Fanjul-Fernandez, Miriam, Rodriguez-Casero, Victoria, Lockhart, Paul J, Va

Journal:

Year:

2019

Language:

english

File:

PDF, 606 KB

english, 2019

15

Anophthalmia in fronto–facial–nasal dysplasia

Blyth, Moira, Baralle, Diana

Journal:

Clinical Dysmorphology

Year:

2011

Language:

english

File:

PDF, 87 KB

english, 2011

16

Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect

Bunyan, David J., Taylor, Emma-Jane, Maloney, Vivienne K., Blyth, Moira

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 431 KB

english, 2014

17

Enhancing inclusion of diverse populations in genomics: A competence framework

Sharif, Saghira M., Blyth, Moira, Ahmed, Mushtaq, Sheridan, Eamonn, Saltus, Roiyah, Yu, Juping, Tonkin, Emma, Kirk, Maggie

Journal:

Journal of Genetic Counseling

Year:

2020

File:

PDF, 864 KB

2020

18

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

Hempel, Annmarie, Pagnamenta, Alistair T, Blyth, Moira, Mansour, Sahar, McConnell, Vivienne, Kou, Ikuyo, Ikegawa, Shiro, Tsurusaki, Yoshinori, Matsumoto, Naomichi, Lo-Castro, Adriana, Plessis, Ghislai

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.31 MB

english, 2016

19

Rubinstein–Taybi syndrome type 2

Hamilton, Mark J., Newbury-Ecob, Ruth, Holder-Espinasse, Muriel, Yau, Shu, Lillis, Suzanne, Hurst, Jane A., Clement, Emma, Reardon, William, Joss, Shelagh, Hobson, Emma, Blyth, Moira, Al-Shehhi, Marya

Journal:

Clinical Dysmorphology

Year:

2016

Language:

english

File:

PDF, 815 KB

english, 2016

20

21q21 deletion involving NCAM2: Report of 3 cases with neurodevelopmental disorders

Petit, Florence, Plessis, Ghislaine, Decamp, Matthieu, Cuisset, Jean-Marie, Blyth, Moira, Pendlebury, Maria, Andrieux, Joris

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 373 KB

english, 2015

21

The Natural History of Flare-Ups in Fibrodysplasia Ossificans Progressiva (FOP): A Comprehensive Global Assessment

Pignolo, Robert J, Bedford-Gay, Christopher, Liljesthröm, Moira, Durbin-Johnson, Blythe P, Shore, Eileen M, Rocke, David M, Kaplan, Frederick S

Journal:

Journal of Bone and Mineral Research

Year:

2016

Language:

english

File:

PDF, 378 KB

english, 2016

22

A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype

Rice, Laura, Stockdale, Claire, Berry, Ian, O’Riordan, Sean, Pysden, Karen, Anwar, Rashida, Rushambuza, Roger, Blyth, Moira, Srikanth, Sonal, Gwack, Yousang, El-Sherbiny, Yasser M., Carter, Clive, Sav

Journal:

Journal of Clinical Immunology

Year:

2019

Language:

english

File:

PDF, 813 KB

english, 2019

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