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Author/Creator Callier, Patrick

1. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations. Issue 5 (4th October 2018)

Authors:
Allach El Khattabi, Laïla; Heide, Solveig; Caberg, Jean-Hubert; Andrieux, Joris; Doco Fenzy, Martine; Vincent-Delorme, Caroline; Callier, Patrick; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Boute-Benejean, Odile; Cordier, Marie Pierre; Faivre, Laurence; Francannet, Christine; Gerard, Marion; ...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 5(2020)
Page Start:
301
Record Type:
Journal Article
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2. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. Issue 2 (11th November 2022)

Authors:
Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot‐Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; ...
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 2(2023)
Page Start:
445
Record Type:
Journal Article
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3. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder. Issue 1 (16th October 2013)

Authors:
Thevenon, Julien; Callier, Patrick; Poquet, Hélène; Bache, Iben; Menten, Bjorn; Malan, Valérie; Cavaliere, Maria Luigia; Girod, Jean-Paul; Thauvin-Robinet, Christel; El Chehadeh, Salima; Pinoit, Jean-Michel; Huet, Frederic; Verges, Bruno; Petit, Jean-Michel; Mosca-Boidron, Anne-Laure; Marle, Nath...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 1(2014)
Page Start:
21
Record Type:
Journal Article
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4. A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease. (11th September 2017)

Authors:
Duplomb, Laurence; Droin, Nathalie; Bouchot, Olivier; Thauvin-Robinet, Christel; Bruel, Ange-Line; Thevenon, Julien; Callier, Patrick; Meurice, Guillaume; Pata-Merci, Noémie; Loffroy, Romaric; Vandroux, David; Costa, Romain D A; Carmignac, Virginie; Solary, Eric; Faivre, Laurence
Journal:
Human molecular genetics
Issue:
Volume 26:Number 23(2017:Dec. 01)
Page Start:
4680
Record Type:
Journal Article
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5. Additional evidence to support the role of the 20q13.33 region in susceptibility to autism. Issue 6 (23rd April 2013)

Authors:
Mosca‐Boidron, Anne‐Laure; Valduga, Mylène; Thauvin‐Robinet, Christel; Lagarde, Nathalie; Marle, Nathalie; Henry, Céline; Pinoit, Jean‐Michel; Huet, Frédéric; Béri‐Deixheimer, Mylène; Ragon, Clémence; Gueneau, Lucie; Payet, Muriel; Callier, Patrick; Mugneret, Francine; Jonveaux, Philippe; Faivre,...
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 6(2013:Jun.)
Page Start:
1505
Record Type:
Journal Article
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7. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. Issue 1 (5th October 2022)

Authors:
Jouret, Guillaume; Egloff, Matthieu; Landais, Emilie; Tassy, Olivier; Giuliano, Fabienne; Karmous‐Benailly, Houda; Coutton, Charles; Satre, Véronique; Devillard, Françoise; Dieterich, Klaus; Vieville, Gaëlle; Kuentz, Paul; le Caignec, Cédric; Beneteau, Claire; Isidor, Bertrand; Nizon, Mathilde; C...
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 1(2023)
Page Start:
52
Record Type:
Journal Article
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8. Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients. Issue 12 (14th November 2017)

Authors:
Lehalle, Daphné; Altunoglu, Umut; Bruel, Ange‐Line; Arnaud, Eric; Blanchet, Patricia; Choi, Jong‐Woo; Désir, Julie; Kiliç, Esra; Lederer, Damien; Pinson, Lucile; Thauvin‐Robinet, Christel; Singer, Amihood; Thevenon, Julien; Callier, Patrick; Kayserili, Hulya; Faivre, Laurence
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 12(2017)
Page Start:
3136
Record Type:
Journal Article
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9. Congenital Heart Defects in Patients with Deletions Upstream of SOX9. Issue 12 (18th October 2013)

Authors:
Sanchez‐Castro, Marta; Gordon, Christopher T.; Petit, Florence; Nord, Alex S.; Callier, Patrick; Andrieux, Joris; Guérin, Patrice; Pichon, Olivier; David, Albert; Abadie, Véronique; Bonnet, Damien; Visel, Axel; Pennacchio, Len A.; Amiel, Jeanne; Lyonnet, Stanislas; Le Caignec, Cédric
Journal:
Human mutation
Issue:
Volume 34:Issue 12(2013:Dec.)
Page Start:
1628
Record Type:
Journal Article
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10. Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations. Issue 2 (5th December 2013)

Authors:
Gueneau, Lucie; Duplomb, Laurence; Sarda, Pierre; Hamel, Christian; Aral, Bernard; Chehadeh, Salima El; Gigot, Nadège; St‐Onge, Judith; Callier, Patrick; Thevenon, Julien; Huet, Frédéric; Carmignac, Virginie; Droin, Nathalie; Faivre, Laurence; Thauvin‐Robinet, Christel
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 2(2014.)
Page Start:
522
Record Type:
Journal Article
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