1. EP17.13: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations. (September 2017) Authors: Kuleva, M.; Ben Miled, S.; Steffann, J.; Bonnefont, J.; Rondeau, S.; Ville, Y.; Munnich, A.; Salomon, L.J. Journal: Ultrasound in obstetrics & gynecology Issue: Volume 50(2017)Supplement 1 Page Start: 341 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. MtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development. (3rd February 2015) Authors: Steffann, J.; Monnot, S.; Bonnefont, J.‐P. Journal: Clinical genetics Issue: Volume 88:Number 5(2015:Nov.) Page Start: 416 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti. (17th July 2020) Authors: Bodemer, C.; Diociaiuti, A.; Hadj‐Rabia, S.; Robert, M.P.; Desguerre, I.; Manière, M.‐C.; de la Dure‐Molla, M.; De Liso, P.; Federici, M.; Galeotti, A.; Fusco, F.; Fraitag, S.; Demily, C.; Taieb, C.; Valeria Ursini, M.; El Hachem, M.; Steffann, J. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 34:Number 7(2020) Page Start: 1415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield. (1st April 2018) Authors: Alabdullatif, Z.; Coulombe, J.; Steffann, J.; Bodemer, C.; Hadj‐Rabia, S. Journal: British journal of dermatology Issue: Volume 178:Number 4(2018) Page Start: e261 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield. (6th February 2018) Authors: Alabdullatif, Z.; Coulombe, J.; Steffann, J.; Bodemer, C.; Hadj‐Rabia, S. Journal: British journal of dermatology Issue: Volume 178:Number 4(2018) Page Start: e261 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations*. (1st March 2021) Authors: Bellon, N.; Hadj‐Rabia, S.; Moulin, F.; Lambe, C.; Lezmi, G.; Charbit‐Henrion, F.; Alby, C.; Le Saché‐de Peufeilhoux, L.; Leclerc‐Mercier, S.; Hadchouel, A.; Steffann, J.; Hovnanian, A.; Lapillonne, A.; Bodemer, C. Journal: British journal of dermatology Issue: Volume 184:Number 3(2021) Page Start: 532 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations. (10th September 2020) Authors: Bellon, N.; Hadj‐Rabia, S.; Moulin, F.; Lambe, C.; Lezmi, G.; Charbit‐Henrion, F.; Alby, C.; Le Saché‐de Peufeilhoux, L.; Leclerc‐Mercier, S.; Hadchouel, A.; Steffann, J.; Hovnanian, A.; Lapillonne, A.; Bodemer, C. Journal: British journal of dermatology Issue: Volume 184:Number 3(2021) Page Start: 532 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations. (1st March 2021) Authors: Bellon, N.; Hadj‐Rabia, S.; Moulin, F.; Lambe, C.; Lezmi, G.; Charbit‐Henrion, F.; Alby, C.; Le Saché‐de Peufeilhoux, L.; Leclerc‐Mercier, S.; Hadchouel, A.; Steffann, J.; Hovnanian, A.; Lapillonne, A.; Bodemer, C. Journal: British journal of dermatology Issue: Volume 184:Number 3(2021) Page Start: 532 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Unique subungueal keratoacanthoma revealing incontinentia pigmenti. (21st September 2015) Authors: Ferneiny, M.; Hadj‐Rabia, S.; Regnier, S.; Ortonne, N.; Smahi, A.; Steffann, J.; Bonnefont, J.‐P.; Fraitag, S.; Chosidow, O.; Bodemer, C. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 30:Number 8(2016:Aug.) Page Start: 1401 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy. Issue 1 (5th March 2015) Authors: Leroy, C.; Jacquemont, M.‐L.; Doray, B.; Lamblin, D.; Cormier‐Daire, V.; Philippe, A.; Nusbaum, S.; Patrat, C.; Steffann, J.; Colleaux, L.; Vekemans, M.; Romana, S.; Turleau, C.; Malan, V. Journal: Clinical genetics Issue: Volume 89:Issue 1(2016) Page Start: 68 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗