348 related articles for article (PubMed ID: 27889060)
21. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T; Sloboda N; Goldenberg A; Küry S; Cogné B; Breheret F; Trochu E; Conrad S; Vincent M; Deb W; Balguerie X; Barbarot S; Baujat G; Ben-Omran T; Bursztejn AC; Carmignac V; Datta AN; Delignières A; Faivre L; Gardie B; Guéant JL; Kuentz P; Lenglet M; Nassogne MC; Ramaekers V; Schnur RE; Si Y; Torti E; Thevenon J; Vabres P; Van Maldergem L; Wand D; Wiedemann A; Cariou B; Redon R; Lamazière A; Bézieau S; Feillet F; Isidor B
Genet Med; 2019 Sep; 21(9):2025-2035. PubMed ID: 30723320
[TBL] [Abstract][Full Text] [Related]
22. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Chemin J; Siquier-Pernet K; Nicouleau M; Barcia G; Ahmad A; Medina-Cano D; Hanein S; Altin N; Hubert L; Bole-Feysot C; Fourage C; Nitschké P; Thevenon J; Rio M; Blanc P; Vidal C; Bahi-Buisson N; Desguerre I; Munnich A; Lyonnet S; Boddaert N; Fassi E; Shinawi M; Zimmerman H; Amiel J; Faivre L; Colleaux L; Lory P; Cantagrel V
Brain; 2018 Jul; 141(7):1998-2013. PubMed ID: 29878067
[TBL] [Abstract][Full Text] [Related]
23. Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
Simons C; Griffin LB; Helman G; Golas G; Pizzino A; Bloom M; Murphy JL; Crawford J; Evans SH; Topper S; Whitehead MT; Schreiber JM; Chapman KA; Tifft C; Lu KB; Gamper H; Shigematsu M; Taft RJ; Antonellis A; Hou YM; Vanderver A
Am J Hum Genet; 2015 Apr; 96(4):675-81. PubMed ID: 25817015
[TBL] [Abstract][Full Text] [Related]
24. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Van Bergen NJ; Guo Y; Al-Deri N; Lipatova Z; Stanga D; Zhao S; Murtazina R; Gyurkovska V; Pehlivan D; Mitani T; Gezdirici A; Antony J; Collins F; Willis MJH; Coban Akdemir ZH; Liu P; Punetha J; Hunter JV; Jhangiani SN; Fatih JM; Rosenfeld JA; Posey JE; Gibbs RA; Karaca E; Massey S; Ranasinghe TG; Sleiman P; Troedson C; Lupski JR; Sacher M; Segev N; Hakonarson H; Christodoulou J
Brain; 2020 Jan; 143(1):112-130. PubMed ID: 31794024
[TBL] [Abstract][Full Text] [Related]
25. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Hardies K; de Kovel CG; Weckhuysen S; Asselbergh B; Geuens T; Deconinck T; Azmi A; May P; Brilstra E; Becker F; Barisic N; Craiu D; Braun KP; Lal D; Thiele H; Schubert J; Weber Y; van 't Slot R; Nürnberg P; Balling R; Timmerman V; Lerche H; Maudsley S; Helbig I; Suls A; Koeleman BP; De Jonghe P;
Brain; 2015 Nov; 138(Pt 11):3238-50. PubMed ID: 26384929
[TBL] [Abstract][Full Text] [Related]
26. Characterization of AP3B2_v2, a novel splice variant of human AP3B2.
Chen C; Zou X; Ji C; Zhao S; Lv L; Gu S; Xie Y; Mao Y
DNA Seq; 2007 Jun; 18(3):165-8. PubMed ID: 17453999
[TBL] [Abstract][Full Text] [Related]
27. RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.
Nishri D; Goldberg-Stern H; Noyman I; Blumkin L; Kivity S; Saitsu H; Nakashima M; Matsumoto N; Leshinsky-Silver E; Lerman-Sagie T; Lev D
Eur J Paediatr Neurol; 2016 May; 20(3):412-7. PubMed ID: 26970947
[TBL] [Abstract][Full Text] [Related]
28. Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.
Aran A; Rosenfeld N; Jaron R; Renbaum P; Zuckerman S; Fridman H; Zeligson S; Segel R; Kohn Y; Kamal L; Kanaan M; Segev Y; Mazaki E; Rabinowitz R; Shen O; Lee M; Walsh T; King MC; Gulsuner S; Levy-Lahad E
Neurology; 2016 May; 86(21):2016-24. PubMed ID: 27164683
[TBL] [Abstract][Full Text] [Related]
29. Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.
Jung J; Bohn G; Allroth A; Boztug K; Brandes G; Sandrock I; Schäffer AA; Rathinam C; Köllner I; Beger C; Schilke R; Welte K; Grimbacher B; Klein C
Blood; 2006 Jul; 108(1):362-9. PubMed ID: 16537806
[TBL] [Abstract][Full Text] [Related]
30. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Perenthaler E; Nikoncuk A; Yousefi S; Berdowski WM; Alsagob M; Capo I; van der Linde HC; van den Berg P; Jacobs EH; Putar D; Ghazvini M; Aronica E; van IJcken WFJ; de Valk WG; Medici-van den Herik E; van Slegtenhorst M; Brick L; Kozenko M; Kohler JN; Bernstein JA; Monaghan KG; Begtrup A; Torene R; Al Futaisi A; Al Murshedi F; Mani R; Al Azri F; Kamsteeg EJ; Mojarrad M; Eslahi A; Khazaei Z; Darmiyan FM; Doosti M; Karimiani EG; Vandrovcova J; Zafar F; Rana N; Kandaswamy KK; Hertecant J; Bauer P; AlMuhaizea MA; Salih MA; Aldosary M; Almass R; Al-Quait L; Qubbaj W; Coskun S; Alahmadi KO; Hamad MHA; Alwadaee S; Awartani K; Dababo AM; Almohanna F; Colak D; Dehghani M; Mehrjardi MYV; Gunel M; Ercan-Sencicek AG; Passi GR; Cheema HA; Efthymiou S; Houlden H; Bertoli-Avella AM; Brooks AS; Retterer K; Maroofian R; Kaya N; van Ham TJ; Barakat TS
Acta Neuropathol; 2020 Mar; 139(3):415-442. PubMed ID: 31820119
[TBL] [Abstract][Full Text] [Related]
31. Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.
Stražišar BG; Neubauer D; Paro Panjan D; Writzl K
Eur J Paediatr Neurol; 2015 Mar; 19(2):251-6. PubMed ID: 25557349
[TBL] [Abstract][Full Text] [Related]
32. Novel AP3B1 mutations in a Hermansky-Pudlak syndrome type2 with neonatal interstitial lung disease.
Matsuyuki K; Ide M; Houjou K; Shima S; Tanaka S; Watanabe Y; Tomino H; Egashira T; Takayanagi T; Tashiro K; Okamura K; Suzuki T; Miyamoto T; Shibata H; Yasumi T; Nishikomori R
Pediatr Allergy Immunol; 2022 Feb; 33(2):e13748. PubMed ID: 35212049
[No Abstract] [Full Text] [Related]
33. [Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review].
Jiang HF; Deng J; Fang F; Li H; Wang XH; Dai LF
Zhonghua Er Ke Za Zhi; 2020 Nov; 58(11):893-899. PubMed ID: 33120460
[No Abstract] [Full Text] [Related]
34. The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review.
André MV; Cacciagli P; Cano A; Vaugier L; Roussel M; Girard N; Chabrol B; Villard L; Milh M
Arch Pediatr; 2021 Jan; 28(1):87-92. PubMed ID: 33342683
[TBL] [Abstract][Full Text] [Related]
35. NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
Wei A; Yuan Y; Bai D; Ma J; Hao Z; Zhang Y; Yu J; Zhou Z; Yang L; Yang X; Li L; Li W
Pigment Cell Melanoma Res; 2016 Nov; 29(6):702-706. PubMed ID: 27593200
[TBL] [Abstract][Full Text] [Related]
36. CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
Nahorski MS; Asai M; Wakeling E; Parker A; Asai N; Canham N; Holder SE; Chen YC; Dyer J; Brady AF; Takahashi M; Woods CG
Brain; 2016 Apr; 139(Pt 4):1036-44. PubMed ID: 26917597
[TBL] [Abstract][Full Text] [Related]
37. A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2).
El-Bazzal L; Atkinson A; Gillart AC; Obeid M; Delague V; Mégarbané A
Eur J Med Genet; 2019 Apr; 62(4):259-264. PubMed ID: 30075207
[TBL] [Abstract][Full Text] [Related]
38. Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.
Tabarki B; AlMajhad N; AlHashem A; Shaheen R; Alkuraya FS
Hum Genet; 2016 Nov; 135(11):1295-1298. PubMed ID: 27567911
[TBL] [Abstract][Full Text] [Related]
39. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad CE; Lev D; Kalscheuer VM; Charzewska A; Schubert J; Lerman-Sagie T; Kroes HY; Oegema R; Traverso M; Specchio N; Lassota M; Chelly J; Bennett-Back O; Carmi N; Koffler-Brill T; Iacomino M; Trivisano M; Capovilla G; Striano P; Nawara M; Rzonca S; Fischer U; Bienek M; Jensen C; Hu H; Thiele H; Altmüller J; Krause R; May P; Becker F; ; Balling R; Biskup S; Haas SA; Nürnberg P; van Gassen KLI; Lerche H; Zara F; Maljevic S; Leshinsky-Silver E
Brain; 2017 Nov; 140(11):2879-2894. PubMed ID: 29053855
[TBL] [Abstract][Full Text] [Related]
40. A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.
Pironti E; Salpietro V; Cucinotta F; Granata F; Mormina E; Efthymiou S; Scuderi C; Gagliano A; Houlden H; Di Rosa G
J Neurogenet; 2018 Dec; 32(4):316-321. PubMed ID: 29989513
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
