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Author/Creator Egloff, Matthieu

1. 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A. Issue 9 (6th July 2020)

Authors:
Niclass, Tanguy; Le Guyader, Gwenael; Beneteau, Claire; Joubert, Madeleine; Pizzuti, Antonio; Giuffrida, Maria Grazia; Bernardini, Laura; Gilbert‐Dussardier, Brigitte; Bilan, Frederic; Egloff, Matthieu
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 9(2020)
Page Start:
2133
Record Type:
Journal Article
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2. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. Issue 1 (5th October 2022)

Authors:
Jouret, Guillaume; Egloff, Matthieu; Landais, Emilie; Tassy, Olivier; Giuliano, Fabienne; Karmous‐Benailly, Houda; Coutton, Charles; Satre, Véronique; Devillard, Françoise; Dieterich, Klaus; Vieville, Gaëlle; Kuentz, Paul; le Caignec, Cédric; Beneteau, Claire; Isidor, Bertrand; Nizon, Mathilde; C...
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 1(2023)
Page Start:
52
Record Type:
Journal Article
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3. Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Issue 4 (19th January 2023)

Authors:
Masson, Julie; Pebrel‐Richard, Céline; Egloff, Matthieu; Frétigny, Mathilde; Beaumont, Marion; Uguen, Kevin; Rollat‐Farnier, Pierre‐Antoine; Diguet, Flavie; Perthus, Isabelle; Le Gudayer, Gwenaël; Haye, Damien; Dupeyron, Marie‐Noëlle Bonnet; Putoux, Audrey; Raskin‐Champion, Fabienne; Till, Marian...
Journal:
Clinical genetics
Issue:
Volume 103:Issue 4(2023)
Page Start:
401
Record Type:
Journal Article
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4. Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers. Issue 4 (October 2017)

Authors:
Rouen, Alexandre; Carlier, Léa; Heide, Solveig; Egloff, Matthieu; Marzin, Pauline; Ader, Flavie; Schwartz, Mathias; Rogers, Eli; Joyé, Nicole; Balet, Richard; Lédée, Nathalie; Prat-Ellenberg, Laura; Cassuto, Nino Guy; Siffroi, Jean-Pierre
Journal:
Reproductive biomedicine online
Issue:
Volume 35:Issue 4(2017)
Page Start:
372
Record Type:
Journal Article
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5. SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects. (9th August 2019)

Authors:
Hureaux, Marguerite; Ben Miled, Selima; Chatron, Nicolas; Coussement, Aurelie; Bessières, Bettina; Egloff, Matthieu; Mechler, Charlotte; Stirnemann, Julien; Tsatsaris, Vassilis; Barcia, Giulia; Turleau, Catherine; Ville, Yves; Encha‐Razavi, Ferechte; Attie‐Bitach, Tania; Malan, Valérie
Journal:
Prenatal diagnosis
Issue:
Volume 39:Number 11(2019)
Page Start:
1026
Record Type:
Journal Article
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