Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
European Journal Of Human Genetics : Ejhg
Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S
Publication Date: 2022-03
Variant appearance in text: TUBA1A: 1285G>A; Glu429Lys
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Prenatal Diagnosis
Deden, Chantal C; Neveling, Kornelia K; Zafeiropopoulou, Dimitra D; Gilissen, Christian C; Pfundt, Rolph R; Rinne, Tuula T; de Leeuw, Nicole N; Faas, Brigitte B; Gardeitchik, Thatjana T; Sallevelt, Suzanne C E H SCEH; Paulussen, Aimee A; Stevens, Servi J C SJC; Sikkel, Esther E; Elting, Mariet W MW; van Maarle, Merel C MC; Diderich, Karin E M KEM; Corsten-Janssen, Nicole N; Lichtenbelt, Klaske D KD; Lachmeijer, Guus G; Vissers, Lisenka E L M LELM; Yntema, Helger G HG; Nelen, Marcel M; Feenstra, Ilse I; van Zelst-Stams, Wendy A G WAG
Publication Date: 2020-07
Variant appearance in text: TUBA1A: 1285G>A; Glu429Lys
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Orphanet Journal Of Rare Diseases
Hebebrand, Moritz M; Hüffmeier, Ulrike U; Trollmann, Regina R; Hehr, Ute U; Uebe, Steffen S; Ekici, Arif B AB; Kraus, Cornelia C; Krumbiegel, Mandy M; Reis, André A; Thiel, Christian T CT; Popp, Bernt B
Publication Date: 2019-02-11
Variant appearance in text: TUBA1A: 1285G>A; Glu429Lys