Výsledky vyhledávání - "Aliya Ishmukhametova"

Akademický článek

A Powerful and Universal Preimplantation Genetic Diagnosis Protocol for Cystic Fibrosis

Autor: Victoria Viart, Aliya Ishmukhametova, Stéphanie Plaza, Garance Verrière, Florielle Saguet, Mireille Claustres, Anne Girardet

Publikováno v: European Medical Journal Reproductive Health, Vol 4, Iss 1, Pp 83-87 (2018)

Background: Cystic fibrosis (CF) is one of the most common indications of preimplantation genetic diagnosis (PGD) for monogenic disorders worldwide. Aims: The aim of this article was to report a universal and powerful assay easily applicable to al

Externí odkaz: https://doaj.org/article/6224f8184a474e58b10cdb02472b17b2

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Molecular Characterization of a Rare Case of Monozygotic Dichorionic Diamniotic Twin Pregnancy after Single Blastocyst Transfer in Preimplantation Genetic Testing (PGT)

Autor: Sophie Brouillet, Sandie Mereuze, Noémie Ranisavljevic, Claire Chauveau, Samir Hamamah, Julie Cattin, Camille Verebi, Christelle Cabrol, Aliya Ishmukhametova, Anne Girardet, Tal Anahory, Marjolaine Willems

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, 2022, 23 (18), pp.10835. ⟨10.3390/ijms231810835⟩

International audience; Preimplantation genetic testing (PGT) is widely used to select unaffected embryos, increasing the odds of having a healthy baby. During the last few decades, it was accepted that monozygotic dichorionic diamniotic twin pregnan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2b7b97f83ff8a088e22cf38c756cb2c
https://doi.org/10.3390/ijms231810835

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Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin

Autor: Aliya Ishmukhametova, A. Girardet, Victoria Viart, Fabienne Dufernez, Marjolaine Willems, Mireille Claustres, Tal Anahory, Sébastien Schmitt, Samir Hamamah

Publikováno v: Prenatal Diagnosis. 37:201-205

This manuscript presents a molecularly demonstrated gonadal mosaicism from paternal origin for X-linked dominant chondrodysplasia punctata by single sperm typing. A couple who had experienced two medical terminations of pregnancy of female fetuses wa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c94faa76e6b562d7064d549e9c1b0686
https://doi.org/10.1002/pd.4982

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Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience

Autor: Samir Hamamah, A. Girardet, Christine Coubes, M. des Georges, Aliya Ishmukhametova, Marjolaine Willems, Tal Anahory, Mireille Claustres

Publikováno v: Clinical Genetics. 87:124-132

This study provides an overview of 10 years of experience of preimplantation genetic diagnosis (PGD) for cystic fibrosis (CF) in our center. Owing to the high allelic heterogeneity of CF transmembrane conductance regulator (CFTR) mutations in south o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3fbf930d2f724bee38a946eefc3957d1
https://doi.org/10.1111/cge.12411

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Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene

Autor: V. Humbertclaude, Christine Coubes, François Rivier, Marie-Claire Vincent, Sylvie Tuffery-Giraud, Déborah Méchin, Mireille Claustres, Aliya Ishmukhametova, Philippe Khau Van Kien, Delphine Thorel

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2012, 20 (10), pp.1096-1100. ⟨10.1038/ejhg.2012.51⟩

International audience; We report on the effectiveness of a custom-designed oligonucleotide-based comparative genomic hybridization microarray (array-CGH) to interrogate copy number across the entire 2.2-Mb genomic region of the DMD gene and its appl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc675a09193e61fd21a433e83a377e81
https://doi.org/10.1038/ejhg.2012.51

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The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis : toward an international consensus

Autor: Martin Schwarz, Martine De Rycke, Stéphanie Plaza, Sioban SenGupta, Victoria Viart, Francesco Fiorentino, Florielle Saguet, Mireille Claustres, Gemma Daina, Aliya Ishmukhametova, Marie des Georges, A. Girardet, Maria Tzetis, Anne-Françoise Roux, Gary Harton, Joaquima Navarro, Caroline Raynal, Pamela Renwick

Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (4), pp.469-478. ⟨10.1038/ejhg.2015.99⟩
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Recercat. Dipósit de la Recerca de Catalunya
instname

Cystic fibrosis (CF) is one of the most common indications for preimplantation genetic diagnosis (PGD) for single gene disorders, giving couples the opportunity to conceive unaffected children without having to consider termination of pregnancy. Howe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebd1198d030c41d8ca1b2050652874a8
https://ddd.uab.cat/record/185339

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Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in the DMD Gene

Autor: Déborah Méchin, Brigitte Chabrol, Bernard de Massy, Philippe Khau Van Kien, Mireille Claustres, Delphine Thorel, Marie-Claire Vincent, Jian-Min Chen, Amandine Boyer, Rafaëlle Bernard, Aliya Ishmukhametova, Frédéric Baudat, Sylvie Tuffery-Giraud

Publikováno v: Human Mutation
Human Mutation, Wiley, 2013, 34 (8), pp.1080-1084. ⟨10.1002/humu.22353⟩

Pathogenic complex genomic rearrangements are being increasingly characterized at the nucleotide level, providing unprecedented opportunities to evaluate the complexities of mutational mechanisms. Here, we report the molecular characterization of a c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc4403dfd0125a5bc4fdf56e7b5f5d30
https://hal.archives-ouvertes.fr/hal-00852768

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Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?

Autor: Sylvie Tuffery-Giraud, Mouna Messaoud Khelifi, Serge Perelman, Philippe Khau Van Kien, Déborah Méchin, Mireille Claustres, Jean Pouget, Delphine Thorel, Aliya Ishmukhametova

Publikováno v: Human Mutation
Human Mutation, Wiley, 2011, 32 (4), pp.467. ⟨10.1002/humu.21471⟩

International audience; We report on two unprecedented cases of pseudoexon activation in the DMD gene resulting from pure intronic double-deletion events that possibly involve microhomology-mediated mechanisms. Array comparative genomic hybridization

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d31c3aa8e8949587a4fb231b650b48f
https://hal.archives-ouvertes.fr/hal-00621292

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