Search

Author/Creator Gouas, Laetitia

1. A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask‐like facial syndrome1. Issue 1 (13th December 2012)

Authors:
Debost‐Legrand, Anne; Eymard‐Pierre, Eleonore; Pebrel‐Richard, Céline; Gouas, Laetitia; Goumy, Carole; Giollant, Michel; Ayed, Wiem; Tchirkov, Andreï; Francannet, Christine; Vago, Philippe
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 1(2013:Jan.)
Page Start:
162
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation. Issue 9 (27th June 2016)

Authors:
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
Journal:
Birth defects research
Issue:
Volume 106:Issue 9(2016)
Page Start:
793
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate. Issue 6 (18th April 2014)

Authors:
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
Journal:
Birth defects research
Issue:
Volume 100:Issue 6(2014:Jun.)
Page Start:
507
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. (24th June 2015)

Authors:
Grati, Francesca Romana; Molina Gomes, Denise; Ferreira, Jose Carlos Pinto B.; Dupont, Celine; Alesi, Viola; Gouas, Laetitia; Horelli‐Kuitunen, Nina; Choy, Kwong Wai; García‐Herrero, Sandra; de la Vega, Alberto Gonzalez; Piotrowski, Krzysztof; Genesio, Rita; Queipo, Gloria; Malvestiti, Barbara; H...
Journal:
Prenatal diagnosis
Issue:
Volume 35:Number 8(2015:Aug.)
Page Start:
801
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?. Issue 16 (4th March 2022)

Authors:
Goumy, Carole; Veronese, Lauren; Stamm, Rodrigue; Domas, Quentin; Hadjab, Kamil; Gallot, Denis; Laurichesse, Hélène; Delabaere, Amélie; Gouas, Laetitia; Salaun, Gaelle; Perbel-Richard, Céline; Vago, Philippe; Tchirkov, Andrei
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 16(2022)
Page Start:
2669
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay. Issue 11 (14th August 2014)

Authors:
Pebrel‐Richard, Celine; Rouzade, Charles; Kemeny, Stephan; Eymard‐Pierre, Eleonore; Gay‐Bellile, Mathilde; Gouas, Laetitia; Tchirkov, Andreï; Goumy, Carole; Vago, Philippe
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 11(2014.)
Page Start:
2964
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage. Issue 1 (July 2018)

Authors:
Salaun, Gaëlle; Tchirkov, Andrei; Francannet, Christine; Pons, Hanae; Brugnon, Florence; Pebrel-Richard, Celine; Gouas, Laetitia; Eymard-Pierre, Eleonore; Vago, Philippe; Goumy, Carole
Journal:
Reproductive biomedicine online
Issue:
Volume 37:Issue 1(2018)
Page Start:
100
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗