Shelagh Joss : rechercher sur Z-Library

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1

A new 1p36.13â1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis

Nolting, Line, BraschâAndersen, Charlotte, Cox, Helen, Kanani, Farah, Parker, Michael, Fry, Andrew E., Loddo, Sara, Novelli, Antonio, Dentici, Maria Lisa, Shelagh, Joss, JÃ¸rgensen, Joan P., Fagerbe

Journal:

Clinical Genetics

Année:

2020

Langue:

english

Fichier:

PDF, 2.28 MB

english, 2020

2

Mardini–Nyhan association (lung agenesis, congenital heart, and thumb anomalies): Three new cases and possible recurrence in a sib—Is there a distinct recessive syndrome?

Rob Hastings, David Harding, Alan Donaldson, Rachel Liebling, Alison Hayes, Alison Kraus, Shelagh Joss, Shuba Narayanaswamy, Peter Turnpenny, Sarah Smithson

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 122 KB

english, 2009

3

Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature

Shelagh K. Joss, Sam Ghazawy, Susan Tomkins, Mushtaq Ahmed, John Bradbury, Eamonn Sheridan

Journal:

European Journal of Pediatrics

Année:

2008

Langue:

english

Fichier:

PDF, 175 KB

english, 2008

4

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn

Journal:

European Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 350 KB

english, 2011

5

The face of Ulnar Mammary syndrome?

Shelagh Joss, Usha Kini, Richard Fisher, Stefan Mundlos, Katrina Prescott, Ruth Newbury-Ecob, John Tolmie

Journal:

European Journal of Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 1.38 MB

english, 2011

6

Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?

Ruth McGowan, Benjamin R. Challoner, Sarah Ross, Susan Holloway, Shelagh Joss, Douglas Wilcox, Simon T. Holden, John Tolmie, Cheryl Longman

Journal:

Clinical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 490 KB

english, 2012

7

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

Yamamoto, Toshiyuki, Wilsdon, Anna, Joss, Shelagh, Isidor, Bertrand, Erlandsson, Anna, Suri, Mohnish, Sangu, Noriko, Shimada, Shino, Shimojima, Keiko, Le Caignec, Cédric, Samuelsson, Lena, Stefanova,

Journal:

Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 944 KB

english, 2014

8

Cleft lip and palate with associated digital and cardiac anomalies

McWilliam, Catherine A., Devlin, Mark F., Joss, Shelagh K., Koppel, David A., Longman, Cheryl, Ray, Arup, Whiteford, Margo L.

Journal:

Clinical Dysmorphology

Année:

2011

Langue:

english

Fichier:

PDF, 149 KB

english, 2011

9

Nasal speech in patients with 12q15 microdeletions

Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn

Journal:

European Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 66 KB

english, 2012

10

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

Laskowski, Roman A., Tyagi, Nidhi, Johnson, Diana, Joss, Shelagh, Kinning, Esther, McWilliam, Catherine, Splitt, Miranda, Thornton, Janet M., Firth, Helen V., Wright, Caroline F.

Journal:

Human Molecular Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 704 KB

english, 2016

11

A Schinzel-Giedion-like syndrome ??? a milder version or a separate condition?

Joss, Shelagh, Dean, John C.S.

Journal:

Clinical Dysmorphology

Année:

2002

Langue:

english

Fichier:

PDF, 230 KB

english, 2002

12

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency

Parry, David A., Holmes, Tim D., Gamper, Nikita, El-Sayed, Walid, Hettiarachchi, Nishani T., Ahmed, Mushtaq, Cook, Graham P., Logan, Clare V., Johnson, Colin A., Joss, Shelagh, Peers, Chris, Prescott,

Journal:

Journal of Allergy and Clinical Immunology

Année:

2016

Langue:

english

Fichier:

PDF, 1.45 MB

english, 2016

13

Nasopharyngeal teratoma associated with a complex congenital cardiac anomaly

Saha, Sumita P., Hobson, Emma, Joss, Shelagh

Journal:

Clinical Dysmorphology

Année:

2007

Langue:

english

Fichier:

PDF, 169 KB

english, 2007

14

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

Isidor, Bertrand, Küry, Sébastien, Rosenfeld, Jill A., Besnard, Thomas, Schmitt, Sébastien, Joss, Shelagh, Davies, Sally J, Roger Lebel, Robert, Henderson, Alex, Schaaf, Christian P., Streff, Haley E.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 285 KB

english, 2016

15

Focal segmental glomerulosclerosis in a female patient with Donnai–Barrow syndrome

Shaheen, Ihab Sakr, Finlay, Eric, Prescott, Katrina, Russell, Meaghan, Longoni, Mauro, Joss, Shelagh

Journal:

Clinical Dysmorphology

Année:

2010

Langue:

english

Fichier:

PDF, 168 KB

english, 2010

16

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

Dias, Cristina, Estruch, Sara B., Graham, Sarah A., McRae, Jeremy, Sawiak, Stephen J., Hurst, Jane A., Joss, Shelagh K., Holder, Susan E., Morton, Jenny E.V., Turner, Claire, Thevenon, Julien, Mellul,

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 2.85 MB

english, 2016

17

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

Symonds, Joseph D., Joss, Shelagh, Metcalfe, Kay A., Somarathi, Suresh, Cruden, Jamie, Devlin, Anita M., Donaldson, Alan, DiDonato, Nataliya, Fitzpatrick, David, Kaiser, Frank J., Lampe, Anne K., Lees

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 655 KB

english, 2017

18

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1

Suri, Mohnish, Evers, Jochem M. G., Laskowski, Roman A., O'Brien, Sinead, Baker, Kate, Clayton-Smith, Jill, Dabir, Tabib, Josifova, Dragana, Joss, Shelagh, Kerr, Bronwyn, Kraus, Alison, McEntagart, Me

Journal:

Molecular Genetics & Genomic Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2017

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

Année:

2016

Langue:

english

Fichier:

PDF, 815 KB

english, 2016

20

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Hamilton, Mark J, Caswell, Richard C, Canham, Natalie, Cole, Trevor, Firth, Helen V, Foulds, Nicola, Heimdal, Ketil, Hobson, Emma, Houge, Gunnar, Joss, Shelagh, Kumar, Dhavendra, Lampe, Anne Katrin, M

Journal:

Journal of Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.44 MB

english, 2017

21

NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea

Campbell, Jamie, FitzPatrick, David R., Azam, Tara, Gibson, Neil A., Somerville, Laura, Joss, Shelagh K., Urquhart, Don S.

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 944 KB

english, 2018

22

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

Année:

2018

Langue:

english

Fichier:

PDF, 969 KB

english, 2018

23

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype

Balak, Chris, Belnap, Newell, Ramsey, Keri, Joss, Shelagh, Devriendt, Koen, Naymik, Marcus, Jepsen, Wayne, Siniard, Ashley L., Szelinger, Szabolcs, Parker, Mary E., Richholt, Ryan, Izatt, Tyler, LaFle

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 1.25 MB

english, 2018

24

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Pat

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 1.60 MB

english, 2018

25

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

Symonds, Joseph D, Zuberi, Sameer M, Stewart, Kirsty, McLellan, Ailsa, O‘Regan, Mary, MacLeod, Stewart, Jollands, Alice, Joss, Shelagh, Kirkpatrick, Martin, Brunklaus, Andreas, Pilz, Daniela T, Shetty

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 413 KB

english, 2019

26

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

Aitken, Stuart, Firth, Helen V., McRae, Jeremy, Halachev, Mihail, Kini, Usha, Parker, Michael J., Lees, Melissa M., Lachlan, Katherine, Sarkar, Ajoy, Joss, Shelagh, Splitt, Miranda, McKee, Shane, Néme

Journal:

The American Journal of Human Genetics

Année:

2019

Fichier:

PDF, 1.98 MB

2019

27

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Mak, Christopher C Y, Doherty, Dan, Lin, Angela E, Vegas, Nancy, Cho, Megan T, Viot, Géraldine, Dimartino, Clémantine, Weisfeld-Adams, James D, Lessel, Davor, Joss, Shelagh, Li, Chumei, Gonzaga-Jaureg

Journal:

Année:

2019

Fichier:

PDF, 1.82 MB

2019

28

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

Pravata, Veronica M., OmelkovÃ¡, Michaela, Stavridis, Marios P., Desbiens, Chelsea M., Stephen, Hannah M., Lefeber, Dirk J., Gecz, Jozef, Gundogdu, Mehmet, Ãunap, Katrin, Joss, Shelagh, Schwartz, Cha

Journal:

European Journal of Human Genetics

Année:

2020

Langue:

english

Fichier:

PDF, 1.33 MB

english, 2020

29

Correction: KAT6A Syndrome: genotypeâphenotype correlation in 76 patients with pathogenic KAT6A variants

Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Pat

Journal:

Genetics in Medicine

Année:

2020

Fichier:

PDF, 178 KB

2020

30

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, FrÃ©dÃ©ric, Toutain, Annick, Bonnet-Brilhault, FrÃ©dÃ©rique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loey

Journal:

Genetics in Medicine

Année:

2020

Fichier:

PDF, 1.00 MB

2020