Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Autor: Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Hom, Jason, Du, Haowei, Iascone, Maria, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Koenig, Mary Kay, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Liu, Pengfei, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nizon, Mathilde, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Santos Simmaro, Fernando, Sals, Karen, Schieving, Jolanda, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Villavicencio-Lorini, Pablo, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Dermaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, Callewaert, Bert

Publikováno v: In The American Journal of Human Genetics 7 March 2024 111(3):509-528

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein

Autor: Ekman-Joelsson Britt-Marie, Vujic Mihailo, Craig Alexander, Heinritz Wolfram, Böhm Johann, Kohlhase Jürgen, Froster Ursula

Publikováno v: BMC Medical Genetics, Vol 9, Iss 1, p 88 (2008)

Abstract Background Autosomal dominant Holt-Oram syndrome (HOS) is caused by mutations in the TBX5 gene and is characterized by congenital heart and preaxial radial ray upper limb defects. Most of the TBX5 mutations found in patients with HOS cause p

Externí odkaz: https://doaj.org/article/2f04e9cce9e14aefa48a943fa71e4ef7

Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome – a case report.

Autor: Nilius, Manfred¹ manfrednilius@niliusklinik.de, Kohlhase, Jürgen² jkohlhase@humangenetik-freiburg.de, Lorenzen, Johann³ Johann.Lorenzen@klinikumdo.de, Lauer, Günter⁴ Guenter.Lauer@uniklinikum-dresden.de, Schulz, Matthias C.⁴ Matthias.Schulz@uniklinikum-dresden.de

Publikováno v: Head & Face Medicine. 2/8/2019, Vol. 15 Issue 1, p1-10. 10p. 3 Color Photographs, 4 Black and White Photographs, 1 Chart.

Neurological outcome in WDR62 primary microcephaly

Autor: Ruaud, Lyse, Drunat, Séverine, Elmaleh‐Bergès, Monique, Ernault, Anais, Guilmin Crepon, Sophie, Ghouzzi, Vincent El, Auvin, Stéphane, Verloes, Alain, Van Maldergem, Lionel, Engel, Camille, Altuzarra, Cecilia, Lamidieu, Charlie, Bayat, Allan, Moortgat, Stéphanie, Pelc, Karine, Maystadt, Isabelle, Abramowicz, Marc, Pirson, Isabelle, Duerinckx, Sarah, Rostomashvili, Nino, Zweier, Christiane, Abou Jamra, Rami, Lorenz, Imke, Haye, Damien, Zaafrane‐Khachnaoui, Khaoula, Vaessen, Sandrine, Capri, Yline, Servais, Laurent, Di Maria, Emilio, Kohlhase, Jürgen, Bast, Thomas, Miladi, Najoua, Dali, Selma, Passemard, Sandrine

Publikováno v: Developmental Medicine and Child Neurology
Developmental Medicine and Child Neurology, Wiley-Blackwell, In press, ⟨10.1111/dmcn.15060⟩

International audience; AIM To characterize the cortical structure, developmental, and cognitive profiles of patients with WD repeat domain 62 (WDR62)-related primary microcephaly.METHOD In this observational study, we describe the developmental, neu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fe8f6e46649c8e66cd05e1ddf10befc
https://hal.archives-ouvertes.fr/hal-03357164

Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections

Autor: Lotz-Havla, Amelie S., Weiß, Katharina J., Schiergens, Katharina A., Brunet, Theresa, Kohlhase, Jürgen, Regenauer-Vandewiele, Stephanie, Maier, Esther M.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8cb1e541bfd4ae125069e2406ba3168c
https://mediatum.ub.tum.de/1652067