157 related articles for article (PubMed ID: 32313197)
1. Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability.
Knapp KM; Luu R; Baerenfaenger M; Zijlstra F; Wessels HJCT; Jenkins D; Lefeber DJ; Neas K; Bicknell LS
J Hum Genet; 2020 Sep; 65(9):743-750. PubMed ID: 32313197
[TBL] [Abstract][Full Text] [Related]
2. Congenital disorders of glycosylation with defective fucosylation.
Hüllen A; Falkenstein K; Weigel C; Huidekoper H; Naumann-Bartsch N; Spenger J; Feichtinger RG; Schaefers J; Frenz S; Kotlarz D; Momen T; Khoshnevisan R; Riedhammer KM; Santer R; Herget T; Rennings A; Lefeber DJ; Mayr JA; Thiel C; Wortmann SB
J Inherit Metab Dis; 2021 Nov; 44(6):1441-1452. PubMed ID: 34389986
[TBL] [Abstract][Full Text] [Related]
3. Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect.
Dauber A; Ercan A; Lee J; James P; Jacobs PP; Ashline DJ; Wang SR; Miller T; Hirschhorn JN; Nigrovic PA; Sackstein R
Hum Mol Genet; 2014 Jun; 23(11):2880-7. PubMed ID: 24403049
[TBL] [Abstract][Full Text] [Related]
4. Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature.
Tahata S; Raymond K; Quade M; Barnes S; Boyer S; League S; Kumanovics A; Abraham R; Jacob E; Menon P; Morava E
Am J Med Genet A; 2022 Jul; 188(7):2005-2018. PubMed ID: 35338746
[TBL] [Abstract][Full Text] [Related]
5. TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Radenkovic S; Martinelli D; Zhang Y; Preston GJ; Maiorana A; Terracciano A; Dentici ML; Pisaneschi E; Novelli A; Ranatunga W; Ligezka AN; Ghesquière B; Deyle DR; Kozicz T; Pinto E Vairo F; Witters P; Morava E
Genet Med; 2022 Apr; 24(4):894-904. PubMed ID: 35042660
[TBL] [Abstract][Full Text] [Related]
6. SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Park JH; Hogrebe M; Grüneberg M; DuChesne I; von der Heiden AL; Reunert J; Schlingmann KP; Boycott KM; Beaulieu CL; Mhanni AA; Innes AM; Hörtnagel K; Biskup S; Gleixner EM; Kurlemann G; Fiedler B; Omran H; Rutsch F; Wada Y; Tsiakas K; Santer R; Nebert DW; Rust S; Marquardt T
Am J Hum Genet; 2015 Dec; 97(6):894-903. PubMed ID: 26637979
[TBL] [Abstract][Full Text] [Related]
7. Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.
Lübke T; Marquardt T; Etzioni A; Hartmann E; von Figura K; Körner C
Nat Genet; 2001 May; 28(1):73-6. PubMed ID: 11326280
[TBL] [Abstract][Full Text] [Related]
8. Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.
Zahra Q; Çakmak Ç; Koprulu M; Shuaib M; Sobreira N; Kalsner L; Sobreira J; Guillen Sacoto MJ; Malik S; Tolun A
J Hum Genet; 2020 Dec; 65(12):1115-1123. PubMed ID: 32737394
[TBL] [Abstract][Full Text] [Related]
9. Incorporation of fucose into glycans independent of the GDP-fucose transporter SLC35C1 preferentially utilizes salvaged over de novo GDP-fucose.
Skurska E; Szulc B; Maszczak-Seneczko D; Wiktor M; Wiertelak W; Makowiecka A; Olczak M
J Biol Chem; 2022 Aug; 298(8):102206. PubMed ID: 35772493
[TBL] [Abstract][Full Text] [Related]
10. The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
Schreml J; Durmaz B; Cogulu O; Keupp K; Beleggia F; Pohl E; Milz E; Coker M; Ucar SK; Nürnberg G; Nürnberg P; Kuhn J; Ozkinay F
Hum Genet; 2014 Jan; 133(1):29-39. PubMed ID: 23982343
[TBL] [Abstract][Full Text] [Related]
11. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Van Scherpenzeel M; Timal S; Rymen D; Hoischen A; Wuhrer M; Hipgrave-Ederveen A; Grunewald S; Peanne R; Saada A; Edvardson S; Grønborg S; Ruijter G; Kattentidt-Mouravieva A; Brum JM; Freckmann ML; Tomkins S; Jalan A; Prochazkova D; Ondruskova N; Hansikova H; Willemsen MA; Hensbergen PJ; Matthijs G; Wevers RA; Veltman JA; Morava E; Lefeber DJ
Brain; 2014 Apr; 137(Pt 4):1030-8. PubMed ID: 24566669
[TBL] [Abstract][Full Text] [Related]
12. A novel mutation in leukocyte adhesion deficiency type II/CDGIIc.
Cagdas D; Yilmaz M; Kandemir N; Tezcan I; Etzioni A; Sanal Ö
J Clin Immunol; 2014 Nov; 34(8):1009-14. PubMed ID: 25239688
[TBL] [Abstract][Full Text] [Related]
13. Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
Boycott KM; Beaulieu CL; Kernohan KD; Gebril OH; Mhanni A; Chudley AE; Redl D; Qin W; Hampson S; Küry S; Tetreault M; Puffenberger EG; Scott JN; Bezieau S; Reis A; Uebe S; Schumacher J; Hegele RA; McLeod DR; Gálvez-Peralta M; Majewski J; Ramaekers VT; ; Nebert DW; Innes AM; Parboosingh JS; Abou Jamra R
Am J Hum Genet; 2015 Dec; 97(6):886-93. PubMed ID: 26637978
[TBL] [Abstract][Full Text] [Related]
14. Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Ansar M; Paracha SA; Serretti A; Sarwar MT; Khan J; Ranza E; Falconnet E; Iwaszkiewicz J; Shah SF; Qaisar AA; Santoni FA; Zoete V; Megarbane A; Ahmed J; Colombo R; Makrythanasis P; Antonarakis SE
Hum Mol Genet; 2019 Mar; 28(6):972-979. PubMed ID: 30481285
[TBL] [Abstract][Full Text] [Related]
15. Identification of functional elements of the GDP-fucose transporter SLC35C1 using a novel Chinese hamster ovary mutant.
Zhang P; Haryadi R; Chan KF; Teo G; Goh J; Pereira NA; Feng H; Song Z
Glycobiology; 2012 Jul; 22(7):897-911. PubMed ID: 22492235
[TBL] [Abstract][Full Text] [Related]
16. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.
El Chehadeh S; Kerstjens-Frederikse WS; Thevenon J; Kuentz P; Bruel AL; Thauvin-Robinet C; Bensignor C; Dollfus H; Laugel V; Rivière JB; Duffourd Y; Bonnet C; Robert MP; Isaiko R; Straub M; Creuzot-Garcher C; Calvas P; Chassaing N; Loeys B; Reyniers E; Vandeweyer G; Kooy F; Hančárová M; Havlovicová M; Prchalová D; Sedláček Z; Gilissen C; Pfundt R; Wassink-Ruiter JSK; Faivre L
Eur J Hum Genet; 2016 Jan; 25(1):43-51. PubMed ID: 27804958
[TBL] [Abstract][Full Text] [Related]
17. Golgi GDP-fucose transporter-deficient mice mimic congenital disorder of glycosylation IIc/leukocyte adhesion deficiency II.
Hellbusch CC; Sperandio M; Frommhold D; Yakubenia S; Wild MK; Popovici D; Vestweber D; Gröne HJ; von Figura K; Lübke T; Körner C
J Biol Chem; 2007 Apr; 282(14):10762-72. PubMed ID: 17276979
[TBL] [Abstract][Full Text] [Related]
18. Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
Ansar M; Riazuddin S; Sarwar MT; Makrythanasis P; Paracha SA; Iqbal Z; Khan J; Assir MZ; Hussain M; Razzaq A; Polla DL; Taj AS; Holmgren A; Batool N; Misceo D; Iwaszkiewicz J; de Brouwer APM; Guipponi M; Hanquinet S; Zoete V; Santoni FA; Frengen E; Ahmed J; Riazuddin S; van Bokhoven H; Antonarakis SE
Genet Med; 2018 Jul; 20(7):778-784. PubMed ID: 28837161
[TBL] [Abstract][Full Text] [Related]
19. Three M syndrome 2 in two Indian patients.
Jacob P; Girisha KM
Am J Med Genet A; 2021 Feb; 185(2):614-616. PubMed ID: 33135300
[TBL] [Abstract][Full Text] [Related]
20. A combination of two novels homozygous FCSK variants cause disorder of glycosylation with defective fucosylation: New patient and literature review.
Manoochehri J; Kamal N; Khamirani HJ; Zoghi S; Haghighi MF; Goodarzi HR; Bagher Tabei SM
Eur J Med Genet; 2022 Aug; 65(8):104535. PubMed ID: 35718084
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
