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Author/Creator Durand, Emmanuelle

1. Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis. Issue 11 (3rd February 2022)

Authors:
Cornière, Nicolas; Thomson, R Brent; Thauvin, Stéphanie; Villoutreix, Bruno O; Karp, Sophie; Dynia, Diane W; Burlein, Sarah; Brinkmann, Lennart; Badreddine, Alaa; Dechaume, Aurélie; Derhourhi, Mehdi; Durand, Emmanuelle; Vaillant, Emmanuel; Froguel, Philippe; Chambrey, Régine; Aronson, Peter S; Bo...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 11(2022)
Page Start:
1035
Record Type:
Journal Article
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2. Erratum: Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. Issue 4 (April 2017)

Authors:
Saeed, Sadia; Bonnefond, Amelie; Manzoor, Jaida; Shabbir, Faiza; Ayesha, Hina; Philippe, Julien; Durand, Emmanuelle; Crouch, Hutokshi; Sand, Olivier; Ali, Muhammad; Butt, Taeed; Rathore, Ahsan W.; Falchi, Mario; Arslan, Muhammad; Froguel, Philippe
Journal:
Obesity
Issue:
Volume 25:Issue 4(2017)
Page Start:
807
Record Type:
Journal Article
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3. Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. (14th July 2015)

Authors:
Saeed, Sadia; Bonnefond, Amélie; Manzoor, Jaida; Shabir, Faiza; Ayesha, Hina; Philippe, Julien; Durand, Emmanuelle; Crouch, Hutokshi; Sand, Olivier; Ali, Muhammad; Butt, Taeed; Rathore, Ahsan W.; Falchi, Mario; Arslan, Muhammad; Froguel, Philippe
Journal:
Obesity
Issue:
Volume 23:Number 8(2015:Aug.)
Page Start:
1687
Record Type:
Journal Article
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4. Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. (14th July 2015)

Authors:
Saeed, Sadia; Bonnefond, Amélie; Manzoor, Jaida; Shabir, Faiza; Ayesha, Hina; Philippe, Julien; Durand, Emmanuelle; Crouch, Hutokshi; Sand, Olivier; Ali, Muhammad; Butt, Taeed; Rathore, Ahsan W.; Falchi, Mario; Arslan, Muhammad; Froguel, Philippe
Journal:
Obesity
Issue:
Volume 23:Number 8(2015:Aug.)
Page Start:
1687
Record Type:
Journal Article
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5. Loss-of-function mutations in ADCY3 cause monogenic severe obesity. (February 2018)

Authors:
Saeed, Sadia; Bonnefond, Amélie; Tamanini, Filippo; Mirza, Muhammad; Manzoor, Jaida; Janjua, Qasim; Din, Sadia; Gaitan, Julien; Milochau, Alexandra; Durand, Emmanuelle; Vaillant, Emmanuel; Haseeb, Attiya; De Graeve, Franck; Rabearivelo, Iandry; Sand, Olivier; Queniat, Gurvan; Boutry, Raphaël; Sch...
Journal:
Nature genetics
Issue:
Volume 50:Number 2(2018)
Page Start:
175
Record Type:
Journal Article
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6. Monogenic diabetes characteristics in a transnational multicenter study from Mediterranean countries. (January 2021)

Authors:
Vaxillaire, Martine; Bonnefond, Amélie; Liatis, Stavros; Ben Salem Hachmi, Leila; Jotic, Aleksandra; Boissel, Mathilde; Gaget, Stefan; Durand, Emmanuelle; Vaillant, Emmanuel; Derhourhi, Mehdi; Canouil, Mickaël; Larcher, Nicolas; Allegaert, Frédéric; Medlej, Rita; Chadli, Asma; Belhadj, Azzedine; ...
Journal:
Diabetes research and clinical practice
Issue:
Volume 171(2021)
Page Start:
Record Type:
Journal Article
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7. Novel LEPR mutations in obese Pakistani children identified by PCR‐based enrichment and next generation sequencing. (9th December 2013)

Authors:
Saeed, Sadia; Bonnefond, Amélie; Manzoor, Jaida; Philippe, Julien; Durand, Emmanuelle; Arshad, Mohsin; Sand, Olivier; Butt, Taeed A; Falchi, Mario; Arslan, Muhammad; Froguel, Philippe
Journal:
Obesity
Issue:
Volume 22:Number 4(2014:Apr.)
Page Start:
1112
Record Type:
Journal Article
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