Full Text Journal Articles by
Author Christelle Cabrol

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Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.

Margaux Serey-Gaut, Marcello Scala, Bruno Reversade, Lyse Ruaud, Christelle Cabrol, Francesco Musacchia, Annalaura Torella, Andrea Accogli, Nathalie Escande-Beillard, Jean Langlais, Gianluca Piatelli, Alessandro Consales, Vincenzo Nigro, Valeria Capra, Lionel Van Maldergem,

The clinical and radiological spectrum of spondylocostal dysostosis syndromes encompasses distinctive costo-vertebral anomalies. RIPPLY2 biallelic pathogenic variants were described in two distinct cervical spine malformation syndromes: Klippel-Feil syndrome and posterior cervical spine malformation. RIPPLY2 is involved in the determination of rostro-caudal polarity and somite patterning during development. To date, only ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(6):1466-1472]

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The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.

Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Mirna Assoum, Yannis Duffourd, Alice Masurel, Geneviève Baujat, Bettina Bessieres, Guillaume Captier, Patrick Edery, Nursel H Elçioğlu, David Geneviève, Alice Goldenberg, Delphine Héron, Sarah Grotto, Sandrine Marlin, Audrey Putoux, Massimiliano Rossi, Pascale Saugier-Veber, Stéphane Triau, Christelle Cabrol, Myriam Vézain, Catherine Vincent-Delorme, Christel Thauvin-Robinet, Julien Thevenon, Pierre Vabres, Patrick Callier, Hulya Kayserili, Laurence Faivre,

The oculoauriculofrontonasal syndrome (OAFNS) is a rare disorder characterized by the association of frontonasal dysplasia (widely spaced eyes, facial cleft, and nose abnormalities) and oculo-auriculo-vertebral spectrum (OAVS)-associated features, such as preauricular ear tags, ear dysplasia, mandibular asymmetry, epibulbar dermoids, eyelid coloboma, and costovertebral anomalies. The etiology is unknown so far. ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2018, 176(12):2740-2750]

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Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

Nicolas Mottet, Christelle Cabrol, Jean-Patrick Metz, Claire Toubin, Francine Arbez-Gindre, Mylène Valduga, Kenneth McElreavey, Didier Riethmuller, Lionel Van Maldergem, Juliette Piard,

A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia and dysmorphic features. Autopsic examination following termination of pregnancy identified a severe disorder of sex development (DSD) including hypospadias, micropenis, bifid ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2019, 62(9):103539]

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Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.

Lyse Ruaud, Gillian I Rice, Christelle Cabrol, Juliette Piard, Mathieu Rodero, Lien van Eyk, Elise Boucher-Brischoux, Alain Maertens de Noordhout, Ricardo Maré, Emmanuel Scalais, Fernand Pauly, François-Guillaume Debray, William Dobyns, Carolina Uggenti, Ji Woo Park, Sun Hur, John H Livingston, Yanick J Crow, Lionel Van Maldergem,

We describe progressive spastic paraparesis in two male siblings and the daughter of one of these individuals. Onset of disease occurred within the first decade, with stiffness and gait difficulties. Brisk deep tendon reflexes and extensor plantar responses were present, in the absence of intellectual disability or dermatological manifestations. Cerebral ... Read more >>

Hum. Mutat. (Human mutation)
[2018, 39(8):1076-1080]

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Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Tores, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bole-Feysot, Patrick Nitschké, Joëlle Roume, Marie-Pierre Cordier, Christine Pietrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzales, Marie-Hélène Saint-Frison, Jelena Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C Verma, Ratna Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Said-Menthon, Laurence Heidet, Sophie Saunier, Cécile Jeanpierre,

Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected anomalies. CAKUT encompass a spectrum of developmental kidney defects, including renal agenesis, hypoplasia, and cystic and non-cystic dysplasia. More than 50 genes have been reported as ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2017, 101(5):803-814]

Cited: 2 times

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Prenatal intestinal volvulus: look for cystic fibrosis.

Taieb Chouikh, Nicolas Mottet, Christelle Cabrol, Yann Chaussy,

Intestinal volvulus is a life-threatening emergency requiring prompt surgical management. Prenatal intestinal volvulus is rare, and most are secondary to intestinal atresia, mesenteric defect or without any underlying cause. Cystic fibrosis (CF) is known to cause digestive tract disorders. After birth, 10-15% of newborns with CF may develop intestinal obstruction ... Read more >>

BMJ Case Rep (BMJ case reports)
[2016, 2016:]

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Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder.

Christelle Cabrol, Thierry Bienvenu, Lyse Ruaud, Emmanuelle Girodon, Gérald Noacco, Marine Delobeau, Ferial Fanian, Bénédicte Richaud-Thiriez, Lionel Van Maldergem, François Aubin,

Acta Derm. Venereol. (Acta dermato-venereologica)
[2016, 96(6):848-849]

Cited: 2 times

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Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhuozhi Wang, Jacob A S Vorstman, Ann Thompson, Regina Regan, Marion Pilorge, Giovanna Pellecchia, Alistair T Pagnamenta, Bárbara Oliveira, Christian R Marshall, Tiago R Magalhaes, Jennifer K Lowe, Jennifer L Howe, Anthony J Griswold, John Gilbert, Eftichia Duketis, Beth A Dombroski, Maretha V De Jonge, Michael Cuccaro, Emily L Crawford, Catarina T Correia, Judith Conroy, Inês C Conceição, Andreas G Chiocchetti, Jillian P Casey, Guiqing Cai, Christelle Cabrol, Nadia Bolshakova, Elena Bacchelli, Richard Anney, Steven Gallinger, Michelle Cotterchio, Graham Casey, Lonnie Zwaigenbaum, Kerstin Wittemeyer, Kirsty Wing, Simon Wallace, Herman van Engeland, Ana Tryfon, Susanne Thomson, Latha Soorya, Bernadette Rogé, Wendy Roberts, Fritz Poustka, Susana Mouga, Nancy Minshew, L Alison McInnes, Susan G McGrew, Catherine Lord, Marion Leboyer, Ann S Le Couteur, Alexander Kolevzon, Patricia Jiménez González, Suma Jacob, Richard Holt, Stephen Guter, Jonathan Green, Andrew Green, Christopher Gillberg, Bridget A Fernandez, Frederico Duque, Richard Delorme, Geraldine Dawson, Pauline Chaste, Cátia Café, Sean Brennan, Thomas Bourgeron, Patrick F Bolton, Sven Bölte, Raphael Bernier, Gillian Baird, Anthony J Bailey, Evdokia Anagnostou, Joana Almeida, Ellen M Wijsman, Veronica J Vieland, Astrid M Vicente, Gerard D Schellenberg, Margaret Pericak-Vance, Andrew D Paterson, Jeremy R Parr, Guiomar Oliveira, John I Nurnberger, Anthony P Monaco, Elena Maestrini, Sabine M Klauck, Hakon Hakonarson, Jonathan L Haines, Daniel H Geschwind, Christine M Freitag, Susan E Folstein, Sean Ennis, Hilary Coon, Agatino Battaglia, Peter Szatmari, James S Sutcliffe, Joachim Hallmayer, Michael Gill, Edwin H Cook, Joseph D Buxbaum, Bernie Devlin, Louise Gallagher, Catalina Betancur, Stephen W Scherer,

Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2014, 94(5):677-694]

Cited: 335 times

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Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

Lionel Van Maldergem, Qingming Hou, Vera M Kalscheuer, Marlène Rio, Martine Doco-Fenzy, Ana Medeira, Arjan P M de Brouwer, Christelle Cabrol, Stefan A Haas, Pierre Cacciagli, Sébastien Moutton, Emilie Landais, Jacques Motte, Laurence Colleaux, Céline Bonnet, Laurent Villard, Juliette Dupont, Heng-Ye Man,

Existence of a discrete new X-linked intellectual disability (XLID) syndrome due to KIAA2022 deficiency was questioned by disruption of KIAA2022 by an X-chromosome pericentric inversion in a XLID family we reported in 2004. Three additional families with likely pathogenic KIAA2022 mutations were discovered within the frame of systematic parallel sequencing ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2013, 22(16):3306-3314]

Cited: 26 times

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Small-molecule activators of insulin-degrading enzyme discovered through high-throughput compound screening.

Christelle Cabrol, Malwina A Huzarska, Christopher Dinolfo, Maria C Rodriguez, Lael Reinstatler, Jake Ni, Li-An Yeh, Gregory D Cuny, Ross L Stein, Dennis J Selkoe, Malcolm A Leissring,

Hypocatabolism of the amyloid beta-protein (Abeta) by insulin-degrading enzyme (IDE) is implicated in the pathogenesis of Alzheimer disease (AD), making pharmacological activation of IDE an attractive therapeutic strategy. However, it has not been established whether the proteolytic activity of IDE can be enhanced by drug-like compounds.Based on the finding that ... Read more >>

PLoS ONE (PloS one)
[2009, 4(4):e5274]

Cited: 27 times

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