OpenURL Connection Search

Select item for more details and to access through your institution.

Molecular Characterization of a Rare Case of Monozygotic Dichorionic Diamniotic Twin Pregnancy after Single Blastocyst Transfer in Preimplantation Genetic Testing (PGT).
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810835
By:
- Brouillet, Sophie;
- Mereuze, Sandie;
- Ranisavljevic, Noémie;
- Chauveau, Claire;
- Hamamah, Samir;
- Cattin, Julie;
- Verebi, Camille;
- Cabrol, Christelle;
- Ishmukhametova, Aliya;
- Girardet, Anne;
- Anahory, Tal;
- Willems, Marjolaine
Publication type:
Article
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
Published in:
Human Genetics, 2021, v. 140, n. 10, p. 1459, doi. 10.1007/s00439-021-02344-6
By:
- Melo, Uirá Souto;
- Piard, Juliette;
- Fischer-Zirnsak, Björn;
- Klever, Marius-Konstantin;
- Schöpflin, Robert;
- Mensah, Martin Atta;
- Holtgrewe, Manuel;
- Arbez-Gindre, Francine;
- Martin, Alain;
- Guigue, Virginie;
- Gaillard, Dominique;
- Landais, Emilie;
- Roze, Virginie;
- Kremer, Valerie;
- Ramanah, Rajeev;
- Cabrol, Christelle;
- Harms, Frederike L.;
- Kornak, Uwe;
- Spielmann, Malte;
- Mundlos, Stefan
Publication type:
Article
Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1466, doi. 10.1002/ajmg.a.61549
By:
- Serey‐Gaut, Margaux;
- Scala, Marcello;
- Reversade, Bruno;
- Ruaud, Lyse;
- Cabrol, Christelle;
- Musacchia, Francesco;
- Torella, Annalaura;
- Accogli, Andrea;
- Escande‐Beillard, Nathalie;
- Langlais, Jean;
- Piatelli, Gianluca;
- Consales, Alessandro;
- Nigro, Vincenzo;
- Capra, Valeria;
- Van Maldergem, Lionel
Publication type:
Article
Small-Molecule Activators of Insulin-Degrading Enzyme Discovered through High-Throughput Compound Screening.
Published in:
PLoS ONE, 2009, v. 4, n. 4, p. 1, doi. 10.1371/journal.pone.0005274
By:
- Cabrol, Christelle;
- Huzarska, Malwina A.;
- Dinolfo, Christopher;
- Rodriguez, Maria C.;
- Reinstatler, Lael;
- Ni, Jake;
- Li-An Yeh;
- Cuny, Gregory D.;
- Stein, Ross L.;
- Selkoe, Dennis J.;
- Leissring, Malcolm A.
Publication type:
Article
Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder.
Published in:
2016
By:
- Cabrol, Christelle;
- Bienvenu, Thierry;
- Ruaud, Lyse;
- Girodon, Emmanuelle;
- Noacco, Gérald;
- Delobeau, Marine;
- Fanian, Ferial;
- Richaud-Thiriez, Bénédicte;
- Van Maldergem, Lionel;
- Aubin, François
Publication type:
Case Study
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 16, p. 3306, doi. 10.1093/hmg/ddt187
By:
- Van Maldergem, Lionel;
- Hou, Qingming;
- Kalscheuer, Vera M.;
- Rio, Marlène;
- Doco-Fenzy, Martine;
- Medeira, Ana;
- de Brouwer, Arjan P.M.;
- Cabrol, Christelle;
- Haas, Stefan A.;
- Cacciagli, Pierre;
- Moutton, Sébastien;
- Landais, Emilie;
- Motte, Jacques;
- Colleaux, Laurence;
- Bonnet, Céline;
- Villard, Laurent;
- Dupont, Juliette;
- Man, Heng-Ye
Publication type:
Article
Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function.
Published in:
Human Mutation, 2018, v. 39, n. 8, p. 1076, doi. 10.1002/humu.23554
By:
- Ruaud, Lyse;
- Rice, Gillian I.;
- Cabrol, Christelle;
- Piard, Juliette;
- Rodero, Mathieu;
- van Eyk, Lien;
- Boucher‐Brischoux, Elise;
- de Noordhout, Alain Maertens;
- Maré, Ricardo;
- Scalais, Emmanuel;
- Pauly, Fernand;
- Debray, François‐Guillaume;
- Dobyns, William;
- Uggenti, Carolina;
- Park, Ji Woo;
- Hur, Sun;
- Livingston, John H.;
- Crow, Yanick J.;
- Van Maldergem, Lionel
Publication type:
Article

Found: 7

Molecular Characterization of a Rare Case of Monozygotic Dichorionic Diamniotic Twin Pregnancy after Single Blastocyst Transfer in Preimplantation Genetic Testing (PGT).

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.

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

Small-Molecule Activators of Insulin-Degrading Enzyme Discovered through High-Throughput Compound Screening.

Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder.

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

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