Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene

Autor: A Terracciano, B Dallapiccola, Rossella Capolino, M.L. Dentici, Antonio Novelli, Emanuele Bellacchio, M. C. Digilio

Publikováno v: Clinical Genetics. 93:1223-1228

Circumferential skin creases Kunze type (CSC-KT; OMIM 156610, 616734) is a rare disorder characterized by folding of excess skin, which leads to ringed creases, known as Michelin Tire Baby Syndrome (MTBS). CSC-KT patients also exhibit facial dysmorph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1028e7be525f4487ad7af43333c03605
https://doi.org/10.1111/cge.13232

PBX1haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Autor: Françoise Devillard, Marie Bidart, Véronique Satre, Pierre-Simon Jouk, Pauline Le Tanno, Frédérique Béna, Pierre F. Ray, Klaus Dieterich, Ida Vogel, Julie Breton, Maria Antonietta Pisanti, Charles Coutton, Hervé Sartelet, Luisa Mackenroth, Siv Fokstuen, M. C. Digilio, Fitsum Guebre-Egziabher, Alexia Apostolou, Karl Hackmann, C Bosson, Rikke Christensen, Sylvie Odent, Antonio Novelli, Radu Harbuz, Rachel Beddow, Gemma Poke, Laura Bernardini, Sylvie Jaillard, Gaëlle Vieville, Florence Amblard

Publikováno v: Le Tanno, P, Breton, J, Bidart, M, Satre, V, Harbuz, R, Ray, P F, Bosson, C, Dieterich, K, Jaillard, S, Odent, S, Poke, G, Beddow, R, Digilio, M C, Novelli, A, Bernardini, L, Pisanti, M A, Mackenroth, L, Hackmann, K, Vogel, I, Christensen, R, Fokstuen, S, Béna, F, Amblard, F, Devillard, F, Vieville, G, Apostolou, A, Jouk, P-S, Guebre-Egziabher, F, Sartelet, H & Coutton, C 2017, ' PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans ', Journal of Medical Genetics, vol. 54, no. 7, pp. 502-510 . https://doi.org/10.1136/jmedgenet-2016-104435

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) represent a significant healthcare burden since it is the primary cause of chronic kidney in children. CNVs represent a recurrent molecular cause of CAKUT but the culprit gene r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66666cd0586cface1fed31d3f6b63bf4
https://doi.org/10.1136/jmedgenet-2016-104435

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

Autor: M, Niceta, K, Margiotti, M C, Digilio, V, Guida, A, Bruselles, S, Pizzi, A, Ferraris, L, Memo, N, Laforgia, M L, Dentici, F, Consoli, I, Torrente, V L, Ruiz-Perez, B, Dallapiccola, B, Marino, A, De Luca, M, Tartaglia

Ellis-van Creveld syndrome (EvC) is a chondral and ectodermal dysplasia caused by biallelic mutations in the EVC, EVC2 and WDR35 genes. A proportion of cases with clinical diagnosis of EvC, however, do not carry mutations in these genes. To identify

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a0734954e6602e733edc7985ca26ef53
http://hdl.handle.net/11573/1193929

Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot

Autor: M. C. Digilio, Emanuele Bellacchio, G Usala, Rita Mingarelli, Rosangela Ferese, C Iannascoli, M Uda, Giovanni Battista Maestrale, Valentina Guida, F Chiappe, Bruno Dallapiccola, Bruno Marino, A. De Luca

Publikováno v: Clinical Genetics. 80:591-594

Tetralogy of Fallot (TOF) (MIM #187500) is a congenital heart disease (CHD) observed in 7–13% of individuals affected by Alagille syndrome (ALGS; MIM #118450) (1, 2), an autosomal dominant disorder characterized by abnormalities of liver, heart, sk

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7a62db590e2f0400ec10997feaec96
https://doi.org/10.1111/j.1399-0004.2011.01710.x

Congenital diaphragmatic hernia in CHARGE syndrome

Autor: G. Casaccia, Pietro Bagolan, P. L. Seymandi, M. C. Digilio

Publikováno v: Pediatric Surgery International. 24:375-378

Congenital diaphragmatic hernia (CDH) has been rarely described in CHARGE syndrome. We report a patient affected by CHARGE syndrome presenting with a right-sided Bochdalek-type diaphragmatic hernia, and collect the pertinent literature. Furthermore,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef77dab58f14d9b43bf906f6b17cd38f
https://doi.org/10.1007/s00383-007-1947-1