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De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate. [electronic resource] by
- Goumy, Carole
- Gay-Bellile, Mathilde
- Eymard-Pierre, Eléonore
- Kemeny, Stephan
- Gouas, Laetitia
- Déchelotte, Pierre
- Gallot, Denis
- Véronèse, Lauren
- Tchirkov, Andrei
- Pebrel-Richard, Céline
- Vago, Philippe
Producer: 20150202
In:
Birth defects research. Part A, Clinical and molecular teratology vol. 100
Availability: No items available.
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6.
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Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. [electronic resource] by
- Goumy, Carole
- Laffargue, Fanny
- Eymard-Pierre, Eléonore
- Kemeny, Stéphen
- Gay-Bellile, Mathilde
- Gouas, Laetiti
- Gallot, Denis
- Francannet, Christine
- Tchirkov, Andrei
- Pebrel-Richard, Céline
- Vago, Philippe
Producer: 20150819
In:
American journal of medical genetics. Part A vol. 167A
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An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3. [electronic resource] by
- Pebrel-Richard, Céline
- Debost-Legrand, Anne
- Eymard-Pierre, Eléonore
- Greze, Victoria
- Kemeny, Stéphan
- Gay-Bellile, Mathilde
- Gouas, Laetitia
- Tchirkov, Andreï
- Vago, Philippe
- Goumy, Carole
- Francannet, Christine
Producer: 20141007
In:
European journal of human genetics : EJHG vol. 22
Availability: No items available.
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ERCC1 and telomere status in breast tumours treated with neoadjuvant chemotherapy and their association with patient prognosis. [electronic resource] by
- Gay-Bellile, Mathilde
- Romero, Pierre
- Cayre, Anne
- Véronèse, Lauren
- Privat, Maud
- Singh, Shalini
- Combes, Patricia
- Kwiatkowski, Fabrice
- Abrial, Catherine
- Bignon, Yves-Jean
- Vago, Philippe
- Penault-Llorca, Frédérique
- Tchirkov, Andreï
Publication details: The journal of pathology. Clinical research Oct 2016
In:
The journal of pathology. Clinical research vol. 2
Availability: No items available.
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Telomere status in chronic lymphocytic leukemia with TP53 disruption. [electronic resource] by
- Guièze, Romain
- Pages, Mélanie
- Véronèse, Lauren
- Combes, Patricia
- Lemal, Richard
- Gay-Bellile, Mathilde
- Chauvet, Martine
- Callanan, Mary
- Kwiatkowski, Fabrice
- Pereira, Bruno
- Vago, Philippe
- Bay, Jacques-Olivier
- Tournilhac, Olivier
- Tchirkov, Andreï
Producer: 20180223
In:
Oncotarget vol. 7
Availability: No items available.
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Is BRCA2 involved in early onset colorectal cancer risk? [electronic resource] by
- Gay-Bellile, Mathilde
- Privat, Maud
- Martins, Alexandra
- Caputo, Sandrine M
- Pebrel-Richard, Céline
- Cavaillé, Mathias
- Viala, Sandrine
- Corsini, Carole
- Rodrigues, Michael
- Barnich, Nicolas
- Bidet, Yannick
- Uhrhammer, Nancy
- Bignon, Yves-Jean
Producer: 20210603
In:
Clinical genetics vol. 97
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11.
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A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation. [electronic resource] by
- Goumy, Carole
- Gay-Bellile, Mathilde
- Salaun, Gaelle
- Kemeny, Stephan
- Eymard-Pierre, Eleonore
- Biard, Marie
- Pebrel-Richard, Celine
- Vanlieferinghen, Philippe
- Francannet, Christine
- Tchirkov, Andrei
- Laurichesse, Helene
- Rouzade, Charles
- Gouas, Laetitia
- Vago, Philippe
Producer: 20171016
In:
Birth defects research. Part A, Clinical and molecular teratology vol. 106
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BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancer. [electronic resource] by
- Kwiatkowski, Fabrice
- Gay-Bellile, Mathilde
- Dessenne, Pascal
- Laquet, Claire
- Boussion, Véronique
- Béguinot, Marie
- Petit, Marie-Françoise
- Grémeau, Anne-Sophie
- Verlet, Céline
- Chaptal, Charlotte
- Broult, Marilyn
- Jouvency, Sylvie
- Duclos, Martine
- Bignon, Yves-Jean
Publication details: Hereditary cancer in clinical practice 2019
In:
Hereditary cancer in clinical practice vol. 17
Availability: No items available.
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13.
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None [electronic resource] by
- Gay-Bellile, Mathilde
- Véronèse, Lauren
- Combes, Patricia
- Eymard-Pierre, Eleonore
- Kwiatkowski, Fabrice
- Dauplat, Marie-Mélanie
- Cayre, Anne
- Privat, Maud
- Abrial, Catherine
- Bignon, Yves-Jean
- Mouret-Reynier, Marie-Ange
- Vago, Philippe
- Penault-Llorca, Frédérique
- Tchirkov, Andrei
Publication details: Oncotarget Sep 2017
In:
Oncotarget vol. 8
Availability: No items available.
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Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease. [electronic resource] by
- Masliah-Planchon, Julien
- Dupont, Céline
- Vartzelis, George
- Trimouille, Aurélien
- Eymard-Pierre, Eléonore
- Gay-Bellile, Mathilde
- Renaldo, Florence
- Dorboz, Imen
- Pagan, Cécile
- Quentin, Samuel
- Elmaleh, Monique
- Kotsogianni, Christina
- Konstantelou, Elissavet
- Drunat, Séverine
- Tabet, Anne-Claude
- Boespflug-Tanguy, Odile
Producer: 20151019
In:
BMC medical genetics vol. 16
Availability: No items available.
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