Dragana J. Josifova : rechercher sur Z-Library

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1

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C

Julia Rankin, Michaela Auer-Grumbach, Warwick Bagg, Kevin Colclough, Nguyen Thuy Duong, Jane Fenton-May, Andrew Hattersley, Judith Hudson, Philip Jardine, Dragana Josifova, Cheryl Longman, Robert McWi

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 270 KB

english, 2008

2

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Sérgio B. Sousa, Omar A. Abdul-Rahman, Armand Bottani, Valérie Cormier-Daire, Alan Fryer, Gabriele Gillessen-Kaesbach, Denise Horn, Dragana Josifova, Alma Kuechler, Melissa Lees, Kay MacDermot, Alex M

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 439 KB

english, 2009

3

Early-Onset Cerebellar Atrophy Associated With Mutation in the CACNA1A Gene

Swati Naik, Keith Pohl, Mohsin Malik, Ata Siddiqui, Dragana Josifova

Journal:

Pediatric Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 335 KB

english, 2011

4

Cantu syndrome–associated SUR2 (ABCC9) mutations in distinct structural domains result in K ATP channel gain-of-function by differential mechanisms

McClenaghan, Conor, Hanson, Alex, Sala-Rabanal, Monica, Roessler, Helen I., Josifova, Dragana, Grange, Dorothy K., van Haaften, Gijs, Nichols, Colin G.

Journal:

Journal of Biological Chemistry

Année:

2018

Langue:

english

Fichier:

PDF, 2.81 MB

english, 2018

5

Treatment of leg ulcers with platelet-derived wound healing factor (pdwhfs) in a patient with beta thalassaemia intermedia

Dragana Josifova, Gabriella Gatt, Alex Aquilina, Viktor Serafimov V, Adrian Vella, Alex E. Felice

Journal:

British Journal of Haematology

Année:

2001

Langue:

english

Fichier:

PDF, 141 KB

english, 2001

6

White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene

ARTEMIS D GIKA, ATA SIDDIQUI, ANTHONY J HULSE, SELVAKUMARI EDWARD, PENNY FALLON, MERIEL E MCENTAGART, WAJANAT JAN, DRAGANA JOSIFOVA, TALLY LERMAN-SAGIE, JAMES DRUMMOND, EDWARD THOMPSON, SAMUEL REFETOF

Journal:

Developmental Medicine & Child Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 699 KB

english, 2010

7

Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities

Frost, Amy R, Böhm, Sabrina V, Sewduth, Raj N, Josifova, Dragana, Ogilvie, Caroline Mackie, Izatt, Louise, Roberts, Roland G

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 252 KB

english, 2010

8

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

Douglas, Jenny, Cilliers, Deirdre, Coleman, Kim, Tatton-Brown, Katrina, Barker, Karen, Bernhard, Brigitte, Burn, John, Huson, Susan, Josifova, Dragana, Lacombe, Didier

Journal:

Nature Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 194 KB

english, 2007

9

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

Peter Green, Matthew Wiseman, Yanick J. Crow, Henry Houlden, Shelley Riphagen, Jean-Pierre Lin, F. Lucy Raymond, Anne-Marie Childs, Eamonn Sheridan, Sian Edwards, Dragana J. Josifova

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 694 KB

english, 2010

10

Response to Johnson et al.

Dragana Josifova, Matthew Wiseman, Peter Green

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 40 KB

english, 2010

11

Structural Pituitary Abnormalities Associated With CHARGE Syndrome

Gregory, Louise C., Gevers, Evelien F., Baker, Joanne, Kasia, Tessa, Chong, Kling, Josifova, Dragana J., Caimari, Maria, Bilan, Frederic, McCabe, Mark J., Dattani, Mehul T.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 581 KB

english, 2013

12

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

Garcia-Gonzalo, Francesc R, Corbit, Kevin C, Sirerol-Piquer, María Salomé, Ramaswami, Gokul, Otto, Edgar A, Noriega, Thomas R, Seol, Allen D, Robinson, Jon F, Bennett, Christopher L, Josifova, Dragana

Journal:

Nature Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 3.34 MB

english, 2011

13

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

Année:

2013

Langue:

english

Fichier:

PDF, 1.47 MB

english, 2013

14

MOTOR NEURON DISEASE: A CASE OF MISGUIDED THERAPEUTIC NIHILISM

Rossor, Alexander, Josifova, Dragana, Howard, Robin, IsaacsItua, Alifa

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Année:

2015

Langue:

english

Fichier:

PDF, 42 KB

english, 2015

15

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

Josifova, Dragana J., Monroe, Glen R., Tessadori, Federico, de Graaff, Esther, van der Zwaag, Bert, Mehta, Sarju G., Harakalova, Magdalena, Duran, Karen J., Savelberg, Sanne M.C., Nijman, Isaäc J., Ju

Journal:

Human Molecular Genetics

Année:

2016

Fichier:

PDF, 1.32 MB

2016

16

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

Josifova, Dragana J., Monroe, Glen R., Tessadori, Federico, de Graaff, Esther, van der Zwaag, Bert, Mehta, Sarju G., Harakalova, Magdalena, Duran, Karen J., Savelberg, Sanne M.C., Nijman, Isaäc J., Ju

Journal:

Human Molecular Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.32 MB

english, 2016

17

Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement

Josifova, Dragana J., Patton, Michael A., Marks, Karen

Journal:

Clinical Dysmorphology

Année:

2004

Langue:

english

Fichier:

PDF, 107 KB

english, 2004

18

Genetics of gynaecological conditions

Josifova, Dragana J.

Journal:

Best Practice & Research Clinical Obstetrics & Gynaecology

Année:

2017

Langue:

english

Fichier:

PDF, 300 KB

english, 2017

19

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