These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

156 related articles for article (PubMed ID: 33187827)

  • 21. The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous
    Buyukdogan M; Hancer VS; Sucak A
    Mol Syndromol; 2023 Apr; 14(2):181-183. PubMed ID: 37064333
    [TBL] [Abstract][Full Text] [Related]  

  • 22. CDG-Id in two siblings with partially different phenotypes.
    Kranz C; Sun L; Eklund EA; Krasnewich D; Casey JR; Freeze HH
    Am J Med Genet A; 2007 Jul; 143A(13):1414-20. PubMed ID: 17551933
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
    Tham E; Eklund EA; Hammarsjö A; Bengtson P; Geiberger S; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Grigelionis G; Conner P; Lindgren P; Lindstrand A; Wedell A; Albåge M; Zielinska K; Nordgren A; Papadogiannakis N; Nishimura G; Grigelioniene G
    Eur J Hum Genet; 2016 Feb; 24(2):198-207. PubMed ID: 25966638
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Key features and clinical variability of COG6-CDG.
    Rymen D; Winter J; Van Hasselt PM; Jaeken J; Kasapkara C; Gokçay G; Haijes H; Goyens P; Tokatli A; Thiel C; Bartsch O; Hecht J; Krawitz P; Prinsen HC; Mildenberger E; Matthijs G; Kornak U
    Mol Genet Metab; 2015 Nov; 116(3):163-70. PubMed ID: 26260076
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype.
    Arora V; Puri RD; Bhai P; Sharma N; Bijarnia-Mahay S; Dimri N; Baijal A; Saxena R; Verma I
    Am J Med Genet A; 2019 Mar; 179(3):480-485. PubMed ID: 30690882
    [TBL] [Abstract][Full Text] [Related]  

  • 26. ALG11-CDG syndrome: Expanding the phenotype.
    Haanpää MK; Ng BG; Gallant NM; Singh KE; Brown C; Kimonis V; Freeze HH; Muller EA
    Am J Med Genet A; 2019 Mar; 179(3):498-502. PubMed ID: 30676690
    [TBL] [Abstract][Full Text] [Related]  

  • 27. COG6-CDG: Novel variants and novel malformation.
    Cirnigliaro L; Bianchi P; Sturiale L; Garozzo D; Mangili G; Keldermans L; Rizzo R; Matthijs G; Fiumara A; Jaeken J; Barone R
    Birth Defects Res; 2022 Mar; 114(5-6):165-174. PubMed ID: 35068072
    [TBL] [Abstract][Full Text] [Related]  

  • 28. COG1-congenital disorders of glycosylation: Milder presentation and review.
    Salazar M; Miyake N; Silva S; Solar B; Papazoglu GM; Asteggiano CG; Matsumoto N
    Clin Genet; 2021 Sep; 100(3):318-323. PubMed ID: 33960418
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
    Al Teneiji A; Bruun TU; Sidky S; Cordeiro D; Cohn RD; Mendoza-Londono R; Moharir M; Raiman J; Siriwardena K; Kyriakopoulou L; Mercimek-Mahmutoglu S
    Mol Genet Metab; 2017 Mar; 120(3):235-242. PubMed ID: 28122681
    [TBL] [Abstract][Full Text] [Related]  

  • 30. DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.
    Elsharkawi I; Wongkittichote P; Daniel EJP; Starosta RT; Ueda K; Ng BG; Freeze HH; He M; Shinawi M
    J Inherit Metab Dis; 2023 Jan; 46(1):92-100. PubMed ID: 36214423
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG.
    Haijes HA; Jaeken J; Foulquier F; van Hasselt PM
    J Med Genet; 2018 Feb; 55(2):137-142. PubMed ID: 28848061
    [TBL] [Abstract][Full Text] [Related]  

  • 32. An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).
    Denecke J; Kranz C; Kemming D; Koch HG; Marquardt T
    Hum Mutat; 2004 May; 23(5):477-86. PubMed ID: 15108280
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.
    Lugli L; Bariola MC; Ferri L; Lucaccioni L; Bertucci E; Cattini U; Torcetta F; Morrone A; Iughetti L; Berardi A
    Am J Med Genet A; 2021 Apr; 185(4):1187-1194. PubMed ID: 33394555
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
    Radenkovic S; Fitzpatrick-Schmidt T; Byeon SK; Madugundu AK; Saraswat M; Lichty A; Wong SYW; McGee S; Kubiak K; Ligezka A; Ranatunga W; Zhang Y; Wood T; Friez MJ; Clarkson K; Pandey A; Jones JR; Morava E
    Mol Genet Metab; 2021 Jan; 132(1):27-37. PubMed ID: 33129689
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.
    Zhao P; Zhang L; Tan L; Luo S; Huang Y; Peng H; Cao J; He X
    Mol Genet Genomic Med; 2021 Sep; 9(9):e1751. PubMed ID: 34331832
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.
    Paesold-Burda P; Maag C; Troxler H; Foulquier F; Kleinert P; Schnabel S; Baumgartner M; Hennet T
    Hum Mol Genet; 2009 Nov; 18(22):4350-6. PubMed ID: 19690088
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing.
    Arai Y; Okanishi T; Kanai S; Okazaki T; Koshimizu E; Miyatake S; Maeoka Y; Fujimoto A; Matsumoto N; Maegaki Y
    Brain Dev; 2022 Nov; 44(10):732-736. PubMed ID: 35907674
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
    Hiraide T; Wada Y; Matsubayashi T; Kadoya M; Masunaga Y; Ohkubo Y; Nakashima M; Okamoto N; Ogata T; Saitsu H
    Brain Dev; 2021 Oct; 43(9):945-951. PubMed ID: 34092405
    [TBL] [Abstract][Full Text] [Related]  

  • 40. CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).
    Schollen E; Grünewald S; Keldermans L; Albrecht B; Körner C; Matthijs G
    Eur J Med Genet; 2005; 48(2):153-8. PubMed ID: 16053906
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.