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Author/Creator Harbuz, Radu

1. Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Issue 5 (4th October 2014)

Authors:
Vaags, Andrea K.; Bowdin, Sarah; Smith, Mary‐Lou; Gilbert‐Dussardier, Brigitte; Brocke‐Holmefjord, Katja S.; Sinopoli, Katia; Gilles, Cindy; Haaland, Tove B.; Vincent‐Delorme, Catherine; Lagrue, Emmanuelle; Harbuz, Radu; Walker, Susan; Marshall, Christian R.; Houge, Gunnar; Kalscheuer, Vera M.; S...
Journal:
Annals of neurology
Issue:
Volume 76:Issue 5(2014:Nov.)
Page Start:
758
Record Type:
Journal Article
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2. Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature. (7th September 2022)

Authors:
Capron, Céline; Januel, Louis; Vieville, Gaëlle; Jaillard, Sylvie; Kuentz, Paul; Salaun, Gaëlle; Nadeau, Gwenaël; Clement, Patrice; Brechard, Marie Pierre; Herve, Bérénice; Dupont, Jean Michel; Gruchy, Nicolas; Chambon, Pascal; Abdelhedi, Fatma; Dahlen, Eric; Vago, Philippe; Harbuz, Radu; Plotton...
Journal:
Andrology
Issue:
Volume 10:Number 8(2022)
Page Start:
1625
Record Type:
Journal Article
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3. Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases. Issue 12 (22nd September 2022)

Authors:
Testard, Quentin; Vanhoye, Xavier; Yauy, Kevin; Naud, Marie-Emmanuelle; Vieville, Gaelle; Rousseau, Francis; Dauriat, Benjamin; Marquet, Valentine; Bourthoumieu, Sylvie; Geneviève, David; Gatinois, Vincent; Wells, Constance; Willems, Marjolaine; Coubes, Christine; Pinson, Lucile; Dard, Rodolphe; ...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 12(2022)
Page Start:
1234
Record Type:
Journal Article
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4. Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction. Issue 6 (17th October 2018)

Authors:
Petre, Graciane; Lorès, Patrick; Sartelet, Hervé; Truffot, Aurélie; Poreau, Brice; Brandeis, Sandrine; Martinez, Guillaume; Satre, Véronique; Harbuz, Radu; Ray, Pierre F.; Amblard, Florence; Devillard, Françoise; Vieville, Gaëlle; Berger, Francois; Jouk, Pierre‐Simon; Vaiman, Daniel; Touré, Amina...
Journal:
Clinical genetics
Issue:
Volume 94:Issue 6(2018)
Page Start:
575
Record Type:
Journal Article
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5. Osteogenesis imperfecta, tricho‐dento‐osseous syndrome and intellectual disability: A familial case with 17q21.33‐q22 (COL1A1 and DLX3) deletion and 7q32.3‐q33 duplication resulting from a reciprocal interchromosomal insertion. Issue 10 (15th August 2013)

Authors:
Harbuz, Radu; Bilan, Frédéric; Couet, Dominique; Charraud, Valérie; Kitzis, Alain; Gilbert‐Dussardier, Brigitte
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 10(2013:Oct.)
Page Start:
2504
Record Type:
Journal Article
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6. PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Issue 7 (7th March 2017)

Authors:
Le Tanno, Pauline; Breton, Julie; Bidart, Marie; Satre, Véronique; Harbuz, Radu; Ray, Pierre F; Bosson, Caroline; Dieterich, Klaus; Jaillard, Sylvie; Odent, Sylvie; Poke, Gemma; Beddow, Rachel; Digilio, Maria Christina; Novelli, Antonio; Bernardini, Laura; Pisanti, Maria Antonietta; Mackenroth, L...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 7(2017)
Page Start:
502
Record Type:
Journal Article
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7. Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30‐year French, retrospective, multicentre study. (10th May 2016)

Authors:
Gruchy, Nicolas; Blondeel, Eleonore; Le Meur, Nathalie; Joly‐Hélas, Géraldine; Chambon, Pascal; Till, Marianne; Herbaux, Martine; Vigouroux‐Castera, Adeline; Coussement, Aurélie; Lespinasse, James; Amblard, Florence; Jimenez Pocquet, Mélanie; Lebel‐Roy, Camille; Carré‐Pigeon, Frédérique; Flori, E...
Journal:
Prenatal diagnosis
Issue:
Volume 36:Number 6(2016)
Page Start:
523
Record Type:
Journal Article
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8. Refining the regulatory region upstream of SOX9 associated with 46, XX testicular disorders of Sex Development (DSD). (21st April 2015)

Authors:
Hyon, Capucine; Chantot‐Bastaraud, Sandra; Harbuz, Radu; Bhouri, Rakia; Perrot, Nicolas; Peycelon, Matthieu; Sibony, Mathilde; Rojo, Sandra; Piguel, Xavier; Bilan, Frederic; Gilbert‐Dussardier, Brigitte; Kitzis, Alain; McElreavey, Ken; Siffroi, Jean‐Pierre; Bashamboo, Anu
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 8(2015:Aug.)
Page Start:
1851
Record Type:
Journal Article
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9. Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis. Issue 4 (8th February 2019)

Authors:
Poreau, Brice; Ramond, Francis; Harbuz, Radu; Satre, Véronique; Barro, Claire; Vettier, Claire; Adouard, Véronique; Thevenon, Julien; Jouk, Pierre‐Simon; Coutton, Charles; Touraine, Renaud; Dieterich, Klaus
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 4(2019)
Page Start:
650
Record Type:
Journal Article
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