Molecular Diagnostics and In Utero Therapeutics for Orofacial Clefts

Autor: Emma Turner, Leslie R Halpern, Shihai Jia, Jeremie D. Oliver, Rena N. D'Souza, Pascal Schneider

Publikováno v: J Dent Res
Journal of dental research, vol. 99, no. 11, pp. 1221-1227

Orofacial clefts and their management impose a substantial burden on patients, on their families, and on the health system. Under the current standard of care, affected patients are subjected to a lifelong journey of corrective surgeries and multidis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ee29426a4036a087ed823e76fd168b3
https://doi.org/10.1177/0022034520936245

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Autor: Verheije, R., Kupchik, G.S., Isidor, B., Kroes, H.Y., Lynch, S.A., Hawkes, L., Hempel, M., Gelb, B.D., Ghoumid, J., D’Amours, G., Chandler, K., Dubourg, C., Loddo, S., Tümer, Z., Shaw-Smith, C., Nizon, M., Shevell, M., Van Hoof, E., Anyane-Yeboa, K., Cerbone, G., Clayton-Smith, J., Cogné, B., Corre, P., Corveleyn, A., De Borre, M., Hjortshøj, T.D., Fradin, M., Gewillig, M., Goldmuntz, E., Hens, G., Lemyre, E., Journel, H., Kini, U., Kortüm, F., Le Caignec, C., Novelli, A., Odent, S., Petit, F., Revah-Politi, A., Stong, N., Strom, T.M., van Binsbergen, E., DDD Study, Devriendt, K., Breckpot, J.

Publikováno v: Verheije, R, Kupchik, G S, Isidor, B, Kroes, H Y, Lynch, S A, Hawkes, L, Hempel, M, Gelb, B D, Ghoumid, J, D’amours, G, Chandler, K, Dubourg, C, Loddo, S, Tümer, Z, Shaw-smith, C, Nizon, M, Shevell, M, Van Hoof, E, Anyane-yeboa, K, Cerbone, G, Clayton-smith, J, Cogné, B, Corre, P, Corveleyn, A, De Borre, M, Hjortshøj, T D, Fradin, M, Gewillig, M, Goldmuntz, E, Hens, G, Lemyre, E, Journel, H, Kini, U, Kortüm, F, Le Caignec, C, Novelli, A, Odent, S, Petit, F, Revah-politi, A, Stong, N, Strom, T M, Van Binsbergen, E, Devriendt, K & Breckpot, J 2019, ' Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability ', European Journal of Human Genetics, vol. 27, no. 2, pp. 278-290 . https://doi.org/10.1038/s41431-018-0281-5
European Journal of Human Genetics, 27(2), 278. Nature Publishing Group
Eur. J. Hum. Genet. 27, 278-290 (2019)

Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects. The identification of patients with loss-of-function variants in MEIS2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2579d855b96e7c1ca9b154f65da5fdce
https://europepmc.org/articles/PMC6336847/

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Autor: Victor Martinez-Glez, Vera Lúcia Gil da Silva Lopes, Federico Tessadori, Sheela Nampoothiri, Connie S. Motter, Marie-José H. van den Boogaard, Patrick W. B. Derksen, Catherine Ward Melver, Madelon M. Maurice, Corstiaan C. Breugem, Hülya Kayserili, Max Krall, Leontine van Unen, Fernando Santos-Simarro, Annelies de Klein, Jeroen Bakkers, Pablo Lapunzina, Elaine Lustosa-Mendes, Anneke Kievit, Margo L. Whiteford, Anne Slavotinek, Hannie Douben, Michael L. Cunningham, Nancy Mizue Kokitsu-Nakata, Wilfred F. J. van IJcken, Koen L.I. van Gassen, Gijs van Haaften, Anne V. Hing, Annette F. Baas, Antonio Richieri-Costa, Maarten P.G. Massink, Raoul C.M. Hennekam, Karen Duran, Siulan Vendramini-Pittoli, Jeannette Hoogeboom, Marco Castori, Ingrid Jordens

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
European Journal of Human Genetics, 26(2), 210-219. Nature Publishing Group
European journal of human genetics, 26(2), 210-219. Nature Publishing Group
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal dominant inheritance with variable expression. We identified heterozy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a718ff8c207d17a228fe00c58947c35c

Autosomal Dominant Nonsyndromic Cleft Lip and Palate: Significant Evidence of Linkage at 18q21.1

Autor: Matthew Gaines, David Hutchings, Ken McElreavey, Stylianos E. Antonarakis, Soraya Beiraghi, Desh Deep Mandhyan, Uppala Radhakrishna, Lucia Bartoloni, Swapan K. Nath, Uppala Ratnamala, Gregory S. Antonarakis

Publikováno v: American Journal of Human Genetics, Vol. 81, No 1 (2007) pp. 180-188

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital facial defects, with an incidence of 1 in 700–1,000 live births among individuals of European descent. Several linkage and association studies of NSCL

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c16be87e62c126fd40257ab834802c1
https://doi.org/10.1086/518944

The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene

Autor: Ergin, H., Nur Semerci, C., Tuǧrul Karakuş, Y., Scheffer, H., Ergin, Ş, Koltuksuz, U., Meijer, R., N Lale Satiroglu Tufan

Publikováno v: Turkish Journal of Pediatrics, 52, 5, pp. 529-33
Turkish Journal of Pediatrics, 52, 529-33
Scopus-Elsevier

The p63 gene is a transcription factor and a member of the p53 family. Heterozygote mutation of the p63 gene is suggested in a number of human syndromes including limb development and/or ectodermal dysplasia. The EEC syndrome, consisting of ectrodact

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::64add10d4f05453e18acef942b861cd9
https://hdl.handle.net/2066/89019