Stebėti
Isabelle Maystadt
Isabelle Maystadt
centre de génétique humaine
Patvirtintas el. paštas ipg.be
Pavadinimas
Cituota
Cituota
Metai
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome
D Lederer, B Grisart, MC Digilio, V Benoit, M Crespin, SC Ghariani, ...
The American Journal of Human Genetics 90 (1), 119-124, 2012
4282012
C offin–S iris syndrome and the BAF complex: genotype–phenotype study in 63 patients
GWE Santen, E Aten, AT Vulto‐van Silfhout, C Pottinger, BWM van Bon, ...
Human mutation 34 (11), 1519-1528, 2013
2472013
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt, J van Reeuwijk, ...
Nature genetics 44 (5), 581-585, 2012
2412012
Fourteen new cases contribute to the characterization of the 7q11. 23 microduplication syndrome
N Van der Aa, L Rooms, G Vandeweyer, J van den Ende, E Reyniers, ...
European journal of medical genetics 52 (2-3), 94-100, 2009
2282009
Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ...
The American Journal of Human Genetics 102 (1), 69-87, 2018
2252018
A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3
D Schepers, G Tortora, H Morisaki, G MacCarrick, M Lindsay, D Liang, ...
Human mutation 39 (5), 621-634, 2018
1612018
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2)
S Banka, D Lederer, V Benoit, E Jenkins, E Howard, S Bunstone, B Kerr, ...
Clinical genetics 87 (3), 252-258, 2015
1562015
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
A Gregor, B Albrecht, I Bader, EK Bijlsma, AB Ekici, H Engels, ...
BMC medical genetics 12, 1-12, 2011
1502011
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease
A Indrieri, VA Van Rahden, V Tiranti, M Morleo, D Iaconis, R Tammaro, ...
The American Journal of Human Genetics 91 (5), 942-949, 2012
1492012
De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability
MJ Parker, AE Fryer, DJ Shears, KL Lachlan, SA McKee, AC Magee, ...
American Journal of Medical Genetics Part A 167 (10), 2231-2237, 2015
1412015
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder
P Szafranski, AV Dharmadhikari, E Brosens, P Gurha, KE Kołodziejska, ...
Genome research 23 (1), 23-33, 2013
1382013
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
PJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ...
Genetics in Medicine 21 (6), 1295-1307, 2019
1312019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in …
M Koczkowska, T Callens, Y Chen, A Gomes, AD Hicks, A Sharp, E Johns, ...
Human mutation 41 (1), 299-315, 2020
1302020
Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature
E Cottereau, I Mortemousque, MP MOIZARD, L Bürglen, D Lacombe, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2013
1122013
The nuclear factor κB–activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset
I Maystadt, R Rezsöhazy, M Barkats, S Duque, P Vannuffel, S Remacle, ...
The American Journal of Human Genetics 81 (1), 67-76, 2007
1112007
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
S Moortgat, S Berland, I Aukrust, I Maystadt, L Baker, V Benoit, ...
European Journal of Human Genetics 26 (1), 64-74, 2018
1072018
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
P Szafranski, T Gambin, AV Dharmadhikari, KC Akdemir, SN Jhangiani, ...
Human genetics 135, 569-586, 2016
1042016
Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease
P Lüningschrör, B Binotti, B Dombert, P Heimann, A Perez-Lara, C Slotta, ...
Nature communications 8 (1), 678, 2017
792017
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome
D Schepers, AJ Doyle, G Oswald, E Sparks, L Myers, PJ Willems, ...
European Journal of Human Genetics 23 (2), 224-228, 2015
712015
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus
I Maystadt, M Zarhrate, P Landrieu, O Boespflug‐Tanguy, S Sukno, ...
Human mutation 23 (5), 525-526, 2004
642004
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Straipsniai 1–20