BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

242 related articles for article (PubMed ID: 34161696)

  • 1. SLC35A2-CDG: novel variants with two ends of the spectrum.
    Kasapkara ÇS; Ceylan AC; Özyürek H; Karakaya Molla G; Civelek Ürey B; Kıreker Köylü O; Küçükçongar Yavaş A; Sönmez FM
    J Pediatr Endocrinol Metab; 2021 Sep; 34(9):1185-1189. PubMed ID: 34161696
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.
    Westenfield K; Sarafoglou K; Speltz LC; Pierpont EI; Steyermark J; Nascene D; Bower M; Pierpont ME
    BMC Med Genet; 2018 Jun; 19(1):100. PubMed ID: 29907092
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
    Vals MA; Ashikov A; Ilves P; Loorits D; Zeng Q; Barone R; Huijben K; Sykut-Cegielska J; Diogo L; Elias AF; Greenwood RS; Grunewald S; van Hasselt PM; van de Kamp JM; Mancini G; Okninska A; Pajusalu S; Rudd PM; Rustad CF; Salvarinova R; de Vries BBA; Wolf NI; ; Ng BG; Freeze HH; Lefeber DJ; Õunap K
    J Inherit Metab Dis; 2019 May; 42(3):553-564. PubMed ID: 30746764
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.
    Miyamoto S; Nakashima M; Ohashi T; Hiraide T; Kurosawa K; Yamamoto T; Takanashi J; Osaka H; Inoue K; Miyazaki T; Wada Y; Okamoto N; Saitsu H
    Mol Genet Genomic Med; 2019 Aug; 7(8):e814. PubMed ID: 31231989
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Clinical characteristics of SLC35A2 gene variants related congenital disorders of glycosylation typeⅡ].
    Lang CH; Yang Y; Niu XY; Yang XL; Chen Y; Zhang YH
    Zhonghua Er Ke Za Zhi; 2020 Jul; 58(7):586-590. PubMed ID: 32605344
    [No Abstract]   [Full Text] [Related]  

  • 6. SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.
    Yates TM; Suri M; Desurkar A; Lesca G; Wallgren-Pettersson C; Hammer TB; Raghavan A; Poulat AL; Møller RS; Thuresson AC; Balasubramanian M
    Eur J Paediatr Neurol; 2018 Nov; 22(6):1095-1102. PubMed ID: 30194038
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy.
    Kimizu T; Takahashi Y; Oboshi T; Horino A; Koike T; Yoshitomi S; Mori T; Yamaguchi T; Ikeda H; Okamoto N; Nakashima M; Saitsu H; Kato M; Matsumoto N; Imai K
    Brain Dev; 2017 Mar; 39(3):256-260. PubMed ID: 27743886
    [TBL] [Abstract][Full Text] [Related]  

  • 8. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
    Ng BG; Sosicka P; Agadi S; Almannai M; Bacino CA; Barone R; Botto LD; Burton JE; Carlston C; Chung BH; Cohen JS; Coman D; Dipple KM; Dorrani N; Dobyns WB; Elias AF; Epstein L; Gahl WA; Garozzo D; Hammer TB; Haven J; Héron D; Herzog M; Hoganson GE; Hunter JM; Jain M; Juusola J; Lakhani S; Lee H; Lee J; Lewis K; Longo N; Lourenço CM; Mak CCY; McKnight D; Mendelsohn BA; Mignot C; Mirzaa G; Mitchell W; Muhle H; Nelson SF; Olczak M; Palmer CGS; Partikian A; Patterson MC; Pierson TM; Quinonez SC; Regan BM; Ross ME; Guillen Sacoto MJ; Scaglia F; Scheffer IE; Segal D; Singhal NS; Striano P; Sturiale L; Symonds JD; Tang S; Vilain E; Willis M; Wolfe LA; Yang H; Yano S; Powis Z; Suchy SF; Rosenfeld JA; Edmondson AC; Grunewald S; Freeze HH
    Hum Mutat; 2019 Jul; 40(7):908-925. PubMed ID: 30817854
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
    Witters P; Tahata S; Barone R; Õunap K; Salvarinova R; Grønborg S; Hoganson G; Scaglia F; Lewis AM; Mori M; Sykut-Cegielska J; Edmondson A; He M; Morava E
    Genet Med; 2020 Jun; 22(6):1102-1107. PubMed ID: 32103184
    [TBL] [Abstract][Full Text] [Related]  

  • 10. ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
    Morava E; Tiemes V; Thiel C; Seta N; de Lonlay P; de Klerk H; Mulder M; Rubio-Gozalbo E; Visser G; van Hasselt P; Horovitz DDG; de Souza CFM; Schwartz IVD; Green A; Al-Owain M; Uziel G; Sigaudy S; Chabrol B; van Spronsen FJ; Steinert M; Komini E; Wurm D; Bevot A; Ayadi A; Huijben K; Dercksen M; Witters P; Jaeken J; Matthijs G; Lefeber DJ; Wevers RA
    J Inherit Metab Dis; 2016 Sep; 39(5):713-723. PubMed ID: 27287710
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
    Ng BG; Buckingham KJ; Raymond K; Kircher M; Turner EH; He M; Smith JD; Eroshkin A; Szybowska M; Losfeld ME; Chong JX; Kozenko M; Li C; Patterson MC; Gilbert RD; Nickerson DA; Shendure J; Bamshad MJ; ; Freeze HH
    Am J Hum Genet; 2013 Apr; 92(4):632-6. PubMed ID: 23561849
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient.
    Lo Barco T; Osanni E; Bordugo A; Rodella G; Iascone M; Tenconi R; Barone R; Dalla Bernardina B; Cantalupo G
    Am J Med Genet A; 2021 Jan; 185(1):219-222. PubMed ID: 33058492
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.
    Dörre K; Olczak M; Wada Y; Sosicka P; Grüneberg M; Reunert J; Kurlemann G; Fiedler B; Biskup S; Hörtnagel K; Rust S; Marquardt T
    J Inherit Metab Dis; 2015 Sep; 38(5):931-40. PubMed ID: 25778940
    [TBL] [Abstract][Full Text] [Related]  

  • 14. SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient.
    Johnsen C; Tabatadze N; Radenkovic S; Botzo G; Kuschel B; Melikishvili G; Morava E
    Mol Genet Metab; 2024 Jul; 142(3):108477. PubMed ID: 38805916
    [TBL] [Abstract][Full Text] [Related]  

  • 15. MAN1B1-CDG: novel patients and novel variant.
    Kasapkara CS; Olgac A; Kilic M; Keldermans L; Matthijs G; Jaeken J
    J Pediatr Endocrinol Metab; 2021 Sep; 34(9):1207-1209. PubMed ID: 34162022
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ALG11-CDG: novel variant and review of the literature.
    Erdal AE; Ceylan AC; Gücüyener K; Öktem RM; Kıreker Köylü O; Kasapkara ÇS
    J Pediatr Endocrinol Metab; 2023 Apr; 36(4):409-413. PubMed ID: 36843332
    [TBL] [Abstract][Full Text] [Related]  

  • 17.
    Kodríková R; Pakanová Z; Krchňák M; Šedivá M; Šesták S; Květoň F; Beke G; Šalingová A; Skalická K; Brennerová K; Jančová E; Baráth P; Mucha J; Nemčovič M
    Biomedicines; 2023 Feb; 11(2):. PubMed ID: 36831116
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
    Ben Ayed I; Ouarda W; Frikha F; Kammoun F; Souissi A; Ben Said M; Bouzid A; Elloumi I; Hamdani TM; Gharbi N; Baklouti N; Guirat M; Mejdoub F; Kharrat N; Boujelbene I; Abdelhedi F; Belguith N; Keskes L; Gibriel AA; Kamoun H; Triki C; Alimi AM; Masmoudi S
    Am J Med Genet A; 2021 Apr; 185(4):1081-1090. PubMed ID: 33403770
    [TBL] [Abstract][Full Text] [Related]  

  • 19. ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.
    de la Morena-Barrio ME; Sabater M; de la Morena-Barrio B; Ruhaak RL; Miñano A; Padilla J; Toderici M; Roldán V; Gimeno JR; Vicente V; Corral J
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1304. PubMed ID: 32530140
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation.
    Bryant EM; Millichap JJ; Spinelli E; Calhoun JD; Miller C; Giannelli J; Wolak J; Sanders V; Carvill GL; Charrow J
    Am J Med Genet A; 2020 Jun; 182(6):1460-1465. PubMed ID: 32267060
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.