Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: INTELLECTUAL DISABILITY - GENETICS , . Treffer: 21
2022
Vogt, G; Verheyen, S; Schwartzmann, S; Ehmke, N; Potratz, C; Schwerin-Nagel, A; Plecko, B; Holtgrewe, M; Seelow, D; Blatterer, J; Speicher, MR; Kornak, U; Horn, D; Mundlos, S; Fischer-Zirnsak, B; Boschann, F
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
J Med Genet. 2022; 59(7):662-668
Doi: 10.1136/jmedgenet-2021-107843
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2021
Voisin, N; Schnur, RE; Douzgou, S; Hiatt, SM; Rustad, CF; Brown, NJ; Earl, DL; Keren, B; Levchenko, O; Geuer, S; Verheyen, S; Johnson, D; Zarate, YA; Hančárová, M; Amor, DJ; Bebin, EM; Blatterer, J; Brusco, A; Cappuccio, G; Charrow, J; Chatron, N; Cooper, GM; Courtin, T; Dadali, E; Delafontaine, J; Del, Giudice, E; Doco, M; Douglas, G; Eisenkölbl, A; Funari, T; Giannuzzi, G; Gruber-Sedlmayr, U; Guex, N; Heron, D; Holla, ØL; Hurst, ACE; Juusola, J; Kronn, D; Lavrov, A; Lee, C; Lorrain, S; Merckoll, E; Mikhaleva, A; Norman, J; Pradervand, S; Prchalová, D; Rhodes, L; Sanders, VR; Sedláček, Z; Seebacher, HA; Sellars, EA; Sirchia, F; Takenouchi, T; Tanaka, AJ; Taska-Tench, H; Tønne, E; Tveten, K; Vitiello, G; Vlčková, M; Uehara, T; Nava, C; Yalcin, B; Kosaki, K; Donnai, D; Mundlos, S; Brunetti-Pierri, N; Chung, WK; Reymond, A
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
AM J HUM GENET. 2021; 108(5): 857-873.
Doi: 10.1016/j.ajhg.2021.04.001
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2019
Begemann, A; Acuña, MA; Zweier, M; Vincent, M; Steindl, K; Bachmann-Gagescu, R; Hackenberg, A; Abela, L; Plecko, B; Kroell-Seger, J; Baumer, A; Yamakawa, K; Inoue, Y; Asadollahi, R; Sticht, H; Zeilhofer, HU; Rauch, A
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
MOL MED. 2019; 25(1): 6-6.
Doi: 10.1186/s10020-019-0073-6
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2018
de Rooy, RLP; Halbertsma, FJ; Struijs, EA; van Spronsen, FJ; Lunsing, RJ; Schippers, HM; van Hasselt, PM; Plecko, B; Wohlrab, G; Whalen, S; Benoist, JF; Valence, S; Mills, PB; Bok, LA
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
Eur J Paediatr Neurol. 2018; 22(4): 662-666.
Doi: 10.1016/j.ejpn.2018.03.009
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2017
Khan, MA; Windpassinger, C; Ali, MZ; Zubair, M; Gul, H; Abbas, S; Khan, S; Badar, M; Mohammad, RM; Nawaz, Z
Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.
J Genet. 2017; 96(2):383-387
Doi: 10.1007/s12041-017-0759-x
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Smolle, MA; Heitzer, E; Geigl, JB; Al, Kaissi, A; Liegl-Atzwanger, B; Seidel, MG; Holzer, LA; Leithner, A
A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.
Pediatr Blood Cancer. 2017; 64(10):
Doi: 10.1002/pbc.26522
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2016
D'Angelo, D; Lebon, S; Chen, Q; Martin-Brevet, S; Snyder, LG; Hippolyte, L; Hanson, E; Maillard, AM; Faucett, WA; Macé, A; Pain, A; Bernier, R; Chawner, SJ; David, A; Andrieux, J; Aylward, E; Baujat, G; Caldeira, I; Conus, P; Ferrari, C; Forzano, F; Gérard, M; Goin-Kochel, RP; Grant, E; Hunter, JV; Isidor, B; Jacquette, A; Jønch, AE; Keren, B; Lacombe, D; Le Caignec, C; Martin, CL; Männik, K; Metspalu, A; Mignot, C; Mukherjee, P; Owen, MJ; Passeggeri, M; Rooryck-Thambo, C; Rosenfeld, JA; Spence, SJ; Steinman, KJ; Tjernagel, J; Van Haelst, M; Shen, Y; Draganski, B; Sherr, EH; Ledbetter, DH; van den Bree, MB; Beckmann, JS; Spiro, JE; Reymond, A; Jacquemont, S; Chung, WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
JAMA Psychiatry. 2016; 73(1): 20-30.
Doi: 10.1001/jamapsychiatry.2015.2123
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Huemer, M; Mulder-Bleile, R; Burda, P; Froese, DS; Suormala, T; Zeev, BB; Chinnery, PF; Dionisi-Vici, C; Dobbelaere, D; Gökcay, G; Demirkol, M; Häberle, J; Lossos, A; Mengel, E; Morris, AA; Niezen-Koning, KE; Plecko, B; Parini, R; Rokicki, D; Schiff, M; Schimmel, M; Sewell, AC; Sperl, W; Spiekerkoetter, U; Steinmann, B; Taddeucci, G; Trejo-Gabriel-Galán, JM; Trefz, F; Tsuji, M; Vilaseca, MA; von Kleist-Retzow, JC; Walker, V; Zeman, J; Baumgartner, MR; Fowler, B
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
J Inherit Metab Dis. 2016; 39(1): 115-124.
Doi: 10.1007/s10545-015-9860-6
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Khan, MA; Khan, S; Windpassinger, C; Badar, M; Nawaz, Z; Mohammad, RM
The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
Ann Hum Genet. 2016; 80(6):342-368
Doi: 10.1111/ahg.12176
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Kopajtich, R; Murayama, K; Janecke, AR; Haack, TB; Breuer, M; Knisely, AS; Harting, I; Ohashi, T; Okazaki, Y; Watanabe, D; Tokuzawa, Y; Kotzaeridou, U; Kölker, S; Sauer, S; Carl, M; Straub, S; Entenmann, A; Gizewski, E; Feichtinger, RG; Mayr, JA; Lackner, K; Strom, TM; Meitinger, T; Müller, T; Ohtake, A; Hoffmann, GF; Prokisch, H; Staufner, C
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Am J Hum Genet. 2016; 99(2):414-422
Doi: 10.1016/j.ajhg.2016.05.027
(- Case Report)
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Schatorjé, E; van der Flier, M; Seppänen, M; Browning, M; Morsheimer, M; Henriet, S; Neves, JF; Vinh, DC; Alsina, L; Grumach, A; Soler-Palacin, P; Boyce, T; Celmeli, F; Goudouris, E; Hayman, G; Herriot, R; Förster-Waldl, E; Seidel, M; Simons, A; de Vries, E
Primary immunodeficiency associated with chromosomal aberration - an ESID survey.
Orphanet J Rare Dis. 2016; 11(1):110-110
Doi: 10.1186/s13023-016-0492-1
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2015
Addis, L; Ahn, JW; Dobson, R; Dixit, A; Ogilvie, CM; Pinto, D; Vaags, AK; Coon, H; Chaste, P; Wilson, S; Parr, JR; Andrieux, J; Lenne, B; Tumer, Z; Leuzzi, V; Aubell, K; Koillinen, H; Curran, S; Marshall, CR; Scherer, SW; Strug, LJ; Collier, DA; Pal, DK
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Hum Mutat. 2015; 36(9):842-850
Doi: 10.1002/humu.22816
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Heidari, A; Tongsook, C; Najafipour, R; Musante, L; Vasli, N; Garshasbi, M; Hu, H; Mittal, K; McNaughton, AJ; Sritharan, K; Hudson, M; Stehr, H; Talebi, S; Moradi, M; Darvish, H; Arshad Rafiq, M; Mozhdehipanah, H; Rashidinejad, A; Samiei, S; Ghadami, M; Windpassinger, C; Gillessen-Kaesbach, G; Tzschach, A; Ahmed, I; Mikhailov, A; Stavropoulos, DJ; Carter, MT; Keshavarz, S; Ayub, M; Najmabadi, H; Liu, X; Ropers, HH; Macheroux, P; Vincent, JB
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet. 2015; 24(20):5697-5710
Doi: 10.1093/hmg/ddv286
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Kolanczyk, M; Krawitz, P; Hecht, J; Hupalowska, A; Miaczynska, M; Marschner, K; Schlack, C; Emmerich, D; Kobus, K; Kornak, U; Robinson, PN; Plecko, B; Grangl, G; Uhrig, S; Mundlos, S; Horn, D
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Eur J Hum Genet. 2015; 23(5):633-638
Doi: 10.1038/ejhg.2014.109
(- Case Report)
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2014
Bernkopf, M; Webersinke, G; Tongsook, C; Koyani, CN; Rafiq, MA; Ayaz, M; Müller, D; Enzinger, C; Aslam, M; Naeem, F; Schmidt, K; Gruber, K; Speicher, MR; Malle, E; Macheroux, P; Ayub, M; Vincent, JB; Windpassinger, C; Duba, HC
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Hum Mol Genet. 2014; 23(15):4015-4023
Doi: 10.1093/hmg/ddu115
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2013
Orendi, K; Uhrig, S; Mach, M; Tschepper, P; Speicher, MR
Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability.
Am J Med Genet A. 2013; 161A(7):1806-1812
Doi: 10.1002/ajmg.a.35986
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2012
Khan, MA; Rafiq, MA; Noor, A; Hussain, S; Flores, JV; Rupp, V; Vincent, AK; Malli, R; Ali, G; Khan, FS; Ishak, GE; Doherty, D; Weksberg, R; Ayub, M; Windpassinger, C; Ibrahim, S; Frye, M; Ansar, M; Vincent, JB
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Am J Hum Genet. 2012; 90(5):856-863
Doi: 10.1016/j.ajhg.2012.03.023
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2008
Kroepfl, T; Petek, E; Schwarzbraun, T; Kroisel, PM; Plecko, B
Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1).
Clin Genet. 2008; 73(5):492-495
Doi: 10.1111/j.1399-0004.2008.00982.x
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Noor, A; Windpassinger, C; Patel, M; Stachowiak, B; Mikhailov, A; Azam, M; Irfan, M; Paterson, AD; Lutufullah, M; Doherty, D; Vincent, JB; Ayub, M
Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
Am J Hum Genet. 2008; 83(5): 656-656.
Doi: 10.1016/j.ajhg.2008.10.005
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2006
Schwarzbraun, T; Ullmann, R; Schubert, M; Ledinegg, M; Ofner, L; Windpassinger, C; Wagner, K; Kroisel, PM; Petek, E
Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.
Cytogenet Genome Res. 2006; 115(1):84-89
Doi: 10.1159/000094804
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2000
Holinski-Feder, E; Reyniers, E; Uhrig, S; Golla, A; Wauters, J; Kroisel, P; Bossuyt, P; Rost, I; Jedele, K; Zierler, H; Schwab, S; Wildenauer, D; Speicher, MR; Willems, PJ; Meitinger, T; Kooy, RF
Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).
Am J Hum Genet. 2000; 66(1):16-25
Doi: 10.1086/302703
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