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Author/Creator Delezoide, Anne-Lise

1. A new lethal syndrome of exomphalos, short limbs, and macrogonadism. Issue 2 (1st February 1999)

Authors:
Faivre, Laurence; Delezoide, Anne-Lise; Narcy, Françoise; Razavi, Féréchté; Bouvier, Raymonde; Cormier-Daire, Valérie; Briard, Marie-Louise; Lyonnet, Stanislas; Vekemans, Michel; Munnich, Arnold; Le Merrer, Martine
Journal:
Journal of medical genetics
Issue:
Volume 36:Issue 2(1999)
Page Start:
131
Record Type:
Journal Article
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2. Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. Issue 11 (28th September 2012)

Authors:
Legendre, Marine; Gonzales, Marie; Goudefroye, Géraldine; Bilan, Frédéric; Parisot, Pauline; Perez, Marie-José; Bonnière, Maryse; Bessières, Bettina; Martinovic, Jelena; Delezoide, Anne-Lise; Jossic, Frédérique; Fallet-Bianco, Catherine; Bucourt, Martine; Tantau, Julia; Loget, Philippe; Loeuillet...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 11(2012)
Page Start:
698
Record Type:
Journal Article
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3. Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. Issue 2 (20th January 2013)

Authors:
Baujat, Geneviève; Huber, Céline; El Hokayem, Joyce; Caumes, Roseline; Do Ngoc Thanh, Claire; David, Albert; Delezoide, Anne-Lise; Dieux-Coeslier, Anne; Estournet, Brigitte; Francannet, Christine; Kayirangwa, Honorine; Lacaille, Florence; Le Bourgeois, Muriel; Martinovic, Jelena; Salomon, Rémi; S...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 2(2013)
Page Start:
91
Record Type:
Journal Article
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4. BBS10 mutations are common in 'Meckel'-type cystic kidneys. Issue 12 (30th August 2010)

Authors:
Putoux, Audrey; Mougou-Zerelli, Soumaya; Thomas, Sophie; Elkhartoufi, Nadia; Audollent, Sophie; Le Merrer, Martine; Lachmeijer, Augusta; Sigaudy, Sabine; Buenerd, Annie; Fernandez, Carla; Delezoide, Anne-Lise; Gubler, Marie-Claire; Salomon, Rémi; Saad, Ali; Cordier, Marie-Pierre; Vekemans, Michel...
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 12(2010)
Page Start:
848
Record Type:
Journal Article
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5. Corrigendum to: DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome. Issue 12 (16th December 2021)

Authors:
Lepagnol-Bestel, Aude-Marie; Zvara, Agnes; Maussion, Gilles; Quignon, Frédérique; Ngimbous, Bedel; Ramoz, Nicolas; Imbeaud, Sandrine; Loe-Mie, Yann; Benihoud, Karim; Agier, Nicolas; Salin, Paul A; Cardona, Ana; Khung-Savatovsky, Suonavy; Kallunki, Pekka; Delabar, Jean-Maurice; Puskas, Laszlo G; D...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 12(2022)
Page Start:
2106
Record Type:
Journal Article
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6. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. Issue 2 (30th July 2009)

Authors:
Cavalcanti, Denise P; Huber, Celine; Le Quan Sang, Kim-Hanh; Baujat, Geneviève; Collins, Felicity; Delezoide, Anne-Lise; Dagoneau, Nathalie; Le Merrer, Martine; Martinovic, Jelena; Mello, Marcos Fernando S; Vekemans, Michel; Munnich, Arnold; Cormier-Daire, Valerie
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 2(2011)
Page Start:
88
Record Type:
Journal Article
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7. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. Issue 4 (12th April 2012)

Authors:
El Hokayem, Joyce; Huber, Céline; Couvé, Adeline; Aziza, Jacqueline; Baujat, Geneviève; Bouvier, Raymonde; Cavalcanti, Denise P; Collins, Felicity A; Cordier, Marie-Pierre; Delezoide, Anne-Lise; Gonzales, Marie; Johnson, Diana; Le Merrer, Martine; Levy-Mozziconacci, Annie; Loget, Philippe; Martin...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 4(2012)
Page Start:
227
Record Type:
Journal Article
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8. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. Issue 6 (5th April 2021)

Authors:
Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Lauren...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 6(2022)
Page Start:
559
Record Type:
Journal Article
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9. Prevalence, timing of diagnosis and mortality of newborns with congenital heart defects: a population-based study. Issue 22 (11th August 2012)

Authors:
Khoshnood, Babak; Lelong, Nathalie; Houyel, Lucile; Thieulin, Anne-Claire; Jouannic, Jean-Marie; Magnier, Suzel; Delezoide, Anne-Lise; Magny, Jean-François; Rambaud, Caroline; Bonnet, Damien; Goffinet, François
Journal:
Heart
Issue:
Volume 98:Issue 22(2012)
Page Start:
1667
Record Type:
Journal Article
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10. RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects. Issue 7 (13th April 2011)

Authors:
Jeanpierre, Cécile; Macé, Guillaume; Parisot, Mélanie; Morinière, Vincent; Pawtowsky, Audrey; Benabou, Marion; Martinovic, Jelena; Amiel, Jeanne; Attié-Bitach, Tania; Delezoide, Anne-Lise; Loget, Philippe; Blanchet, Patricia; Gaillard, Dominique; Gonzales, Marie; Carpentier, Wassila; Nitschke, Pa...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 7(2011)
Page Start:
497
Record Type:
Journal Article
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