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22492991,23109149,23806237,11733564,16641202,22306853,28122681,22304930,20679665,22983704,24157261,22213132,10642602,22240719,22305527,25681648,25192513,24784932,28778787,32681751,21175687,11701646,23988505,14709599,26264460,23890587,23622397,19728970,31563034,36579437,23423671,23730680,31727010,23249953,33340551,22966035,13130291,25044680,33261925,27343064,31529350,15545299,26931382,32530140,35319586,30653653,12872255,12357336,21970833,28940310,21112967,19862844,35279850,28139241,33644825,16079417,26805780,15107842,25392994,11805078,26260076,28619360,20605848,10914684,19856127,28662078,27053713,30982613,32852845,10852543,32289257,24461919,28742265,20080937,22343051,30676690,16037491,21785126,30746764,14517965,15771971,36843332,33960646,35907674,22976764,30931530,29907092,29079546,19835842,27435318,30061496,26014514,30397276,23928051,34092405,32991969,23686279,34831340,26307094,33407696,30945312,31067009,29878199,24348268,36426412,29908352,34162022,34143952,22683087,37069668,23842455,34161696,24878975,34653363,24781210,28323990,15148656,33960418,24102521,25270028,23742123,11326280,27290639,29869806,18392739,36214423,30776362,23430862,33734437,34358634,34389986,21362473,30817854,25609749,11901181,11529501,23095910,28820871,29235540,27401145,27391121,33187827,30262252,22607940,25281896,29321044,33798445,11733556,28887793,24461907,24643038,35042660,35068072,30690882,25966638,32683677,23561849,33583022,22327749,23606727,24279917,24153356,23111317,34802815,30454869,35839600,31705726,29497882,34837688,27862579,12905014,24144945,29709711,23791010,32407885,23829171,32267060,17506657,31925597,32655146,34022244,30019980,28777499,12756558,31481313,26443249,25046240,32512173,26066342,22242004,29998879,28484880,29759592,26637979,30071302,22386715,25131622,23709756,29112118,24051442,35718084,26846447,24501762,30950015,32677746,21029365,25305627,25735936,18500572,35810430,32253875,35327592,33076454,24931394,26283276,22983739,27276562,22304929,22641181,28848061,35674301,23430830,29396028,24850488,35810431,24982104,28292286,36597345,33403770,31741824,24388574,28600779,24577744,24524732,21185756,25446393,16007612,35137040,23873973,31534212,29702557,28108845,25840516,23575229,15273506,22496445,25267602,28816422,24720419,32049367,25773692,24433453,33342467,31036665,28726068,26401844,25786579,32557671,24566669,23228021,29721919,34141584,28733338,12763243,26833330,24875750,26251150,23042393,27287710,26581487,37152991,29606283,22838182,34331832,33618527,35339718,31132195,36046393,30740408,25558065,24218363,28457853,30117111,26489029,23798010,23329837,12872847,30587846,34043239,30737079,25019053,23996431,37108612,35240324,34625039,12855228,33554500,34625939,25496018,23596069,19701946,25943031,27480077,24507773,19028570,32216104,28424003,27995398,25778940,26036949,34602961,19101627,28617415,36233305,31743061,14973782,33964207,32293671,31580894,36831116,34462534,22290570,25539947,26420031,36166480,32174980,25666757,36930724,32874916,23844659,19267216,36873091,35907899,33663989,23485208,36214454,31095764,34621841,25319632,17584079,24716661,34173795,26752647,21811164,29579191,29320387,28844463,34788024,34956305,28155230,19061954,33440761,32246563,35910228,24063868,27040397,33396746,28216230,28932688,19729382,35682409,23352163,24254849,35732497,31949757,33080352,34106226,33643843,34122512,28685491,35562242,26453364,23430531,20852264,35955863,9504796,34447415,22786653,32157688,35637269,35790351,30048639,34999954,27148587,18485644,31077402,26892341,36324500,21541726,12872840,23059969,28543917,23082948,36756224,32905044,36142510,21060795,17395513,25078397,28643274,9032653,36200043,25840006,32613181,24499211,37124179,27206562,36386804,32681750,33088445,30388443,11723393,26279649,35006422,36357165,33728255,37064333,12607543,11733552,21437994,33807002,26920903,27053910,29997612,32955910,28777481,34163424,19419693,30708323,27923528,36588700,36843136,10586187,26238249,30008170,33497766,33098103,29802345,35536942,21732094,26242989,26539891,26303607,11003549,31572517,10486078,33014431,34567092,32250540,26043514,26577042,36854416,36695248,32790950,23430515,31912665,31374155,29531722,11356431,19765534,25158045,31815737,35571423,25318123,36636598,28808687,34567084,33473337,35368693,34607751,26237740,27980613,31585110,32058618[uid]

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Year	Number of Results
1997	1
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474 results

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Page 1

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ. Timal S, et al. Hum Mol Genet. 2012 Oct 1;21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5. Hum Mol Genet. 2012. PMID: 22492991

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ. Barone R, et al. Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632. Ann Neurol. 2012. PMID: 23109149

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.

Jones MA, Rhodenizer D, da Silva C, Huff IJ, Keong L, Bean LJ, Coffee B, Collins C, Tanner AK, He M, Hegde MR. Jones MA, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):78-85. doi: 10.1016/j.ymgme.2013.05.012. Epub 2013 May 28. Mol Genet Metab. 2013. PMID: 23806237

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.

Schenk B, Imbach T, Frank CG, Grubenmann CE, Raymond GV, Hurvitz H, Korn-Lubetzki I, Revel-Vik S, Raas-Rotschild A, Luder AS, Jaeken J, Berger EG, Matthijs G, Hennet T, Aebi M. Schenk B, et al. J Clin Invest. 2001 Dec;108(11):1687-95. doi: 10.1172/JCI13419. J Clin Invest. 2001. PMID: 11733564 Free PMC article.

A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.

Dancourt J, Vuillaumier-Barrot S, de Baulny HO, Sfaello I, Barnier A, le Bizec C, Dupre T, Durand G, Seta N, Moore SE. Dancourt J, et al. Pediatr Res. 2006 Jun;59(6):835-9. doi: 10.1203/01.pdr.0000219430.52532.8e. Epub 2006 Apr 26. Pediatr Res. 2006. PMID: 16641202

Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.

Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T. Sorte H, et al. Eur J Med Genet. 2012 Mar;55(3):196-202. doi: 10.1016/j.ejmg.2012.01.003. Epub 2012 Jan 16. Eur J Med Genet. 2012. PMID: 22306853

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. Al Teneiji A, et al. Mol Genet Metab. 2017 Mar;120(3):235-242. doi: 10.1016/j.ymgme.2016.12.014. Epub 2017 Jan 3. Mol Genet Metab. 2017. PMID: 28122681

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.

Würde AE, Reunert J, Rust S, Hertzberg C, Haverkämper S, Nürnberg G, Nürnberg P, Lehle L, Rossi R, Marquardt T. Würde AE, et al. Mol Genet Metab. 2012 Apr;105(4):634-41. doi: 10.1016/j.ymgme.2012.01.001. Epub 2012 Jan 9. Mol Genet Metab. 2012. PMID: 22304930

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.

Dupré T, Vuillaumier-Barrot S, Chantret I, Sadou Yayé H, Le Bizec C, Afenjar A, Altuzarra C, Barnérias C, Burglen L, de Lonlay P, Feillet F, Napuri S, Seta N, Moore SE. Dupré T, et al. J Med Genet. 2010 Nov;47(11):729-35. doi: 10.1136/jmg.2009.072504. Epub 2010 Aug 2. J Med Genet. 2010. PMID: 20679665 Free article.

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.

Matthijs G, Rymen D, Millón MB, Souche E, Race V. Matthijs G, et al. Glycoconj J. 2013 Jan;30(1):67-76. doi: 10.1007/s10719-012-9445-7. Epub 2012 Sep 15. Glycoconj J. 2013. PMID: 22983704 Review.

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