Výsledky vyhledávání - "J M van Hagen"

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

Autor: Inge B. Mathijssen, Claire G. Salter, J M van Hagen, Tara Montgomery, Manuela Priolo, T. E. Neumann, Charles Shaw-Smith, I. H. Acero, Raoul C.M. Hennekam, L. Pintomalli, Fernando Santos-Simarro, Christine Coubes, Maria Iascone, Leonie A. Menke, Nursel Elcioglu, M. Zollino, Ghayda M. Mirzaa, Shane McKee, Rajesh V. Thakker, S. Piening, I. Dapia, C. Mammì, Arveen Kamath, Jair Tenorio, Emilia K. Bijlsma, Pierre Sarda, W. W. Dunn, Denny Schanze, Paul A. Mulder, Pablo Lapunzina, Martin Zenker, A. van Haeringen, Laura Bernardini, Jan Liebelt, N. Di Donato, Dorothee Neubauer, Jill A. Fahrner, Alison Foster, Sally Ann Lynch, Sue Price, A. M. Landlust, Sally J. Davies, N. G. González, I. Huber, Rita Valdez, I. D. C. van Balkom, Maria Antonietta Pisanti, Saskia M. Maas, Sarah F. Smithson, Pedro Arias, Mohnish Suri, Mabel Segovia, Kreepa Kooblall, Katrina Tatton-Brown, Trevor Cole, A. S. Plomp, Ann Sophie Kaiser, Fowzan S. Alkuraya

Publikováno v: J Intellect Disabil Res
Mulder, P A, van Balkom, I D C, Landlust, A M, Priolo, M, Menke, L A, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Kooblall, K, Lapunzina, P, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Schanze, D, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Tatton-Brown, K, Tenorio, J, Thakker, R V, Valdez, R M, van Haeringen, A, van Hagen, J M, Zenker, M, Zollino, M, Dunn, W W, Piening, S & Hennekam, R C 2020, ' Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes ', Journal of Intellectual Disability Research, vol. 64, no. 12, pp. 956-969 . https://doi.org/10.1111/jir.12787
Journal of Intellectual Disability Research, 64(12), 956-969. Wiley-Blackwell
Journal of Intellectual Disability Research, 64(12), 956-969. WILEY
Journal of intellectual disability research, 64(12), 956-969. Wiley-Blackwell

BACKGROUND: Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5de6be3c9250c5a8b430e944ce44d898
https://pubmed.ncbi.nlm.nih.gov/33034087

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Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest

Autor: M. Isrie, L. Wong, J M van Hagen, Arjan C. Houweling

Publikováno v: Netherlands Heart Journal
Isrie, M, Wong, L, van Hagen, J M & Houweling, A C 2019, ' Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest ', Netherlands Heart Journal, vol. 27, no. 1, pp. 54-55 . https://doi.org/10.1007/s12471-018-1207-0
Netherlands Heart Journal, 27(1), 54-55. Bohn Stafleu van Loghum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd337fb5595041a25e0ed022e0089a1a
http://www.scopus.com/inward/record.url?scp=85059479679&partnerID=8YFLogxK

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Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

Autor: N Morrison, Marjolein H. Willemsen, Helger G. Yntema, John Tolmie, N. de Leeuw, Willy M. Nillesen, Gea Beunders, Tjitske Kleefstra, Han G. Brunner, M Callaghan, S T M Keijzers-Vloet, A W M Nieuwint, Alexander Hoischen, J M van Hagen

Publikováno v: Willemsen, M H, Beunders, G, Callaghan, M, de Leeuw, N, Nillesen, W M, Yntema, H G, van Hagen, J M, Nieuwint, A W M, Morrison, N, Keijzers-Vloet, S T M, Hoischen, A, Brunner, H G, Tolmie, J & Kleefstra, T 2011, ' Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions ', Clinical Genetics, vol. 80, no. 1, pp. 31-38 . https://doi.org/10.1111/j.1399-0004.2010.01607.x
Clinical Genetics, 80(1), 31-38. Wiley-Blackwell
Clinical Genetics, 80, 1, pp. 31-8
Clinical Genetics, 80, 31-8

Contains fulltext : 97912.pdf (Publisher’s version ) (Closed access) The Kleefstra syndrome (Online Mendelian Inheritance in Man 607001) is caused by a submicroscopic 9q34.3 deletion or by intragenic euchromatin histone methyl transferase 1 (EHMT1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f209a7a2d604877a0d5b2e8087df48ff
https://hdl.handle.net/2066/97912

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Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome

Autor: A. Van der Linden, L. C. P. Govaerts, R. S. Van Der Giessen, Sebastiaan K. E. Koekkoek, Maaike C E Jansweijer, G.C. Lagers-van Haselen, C. I. De Zeeuw, S.S. Thorgeirsson, Maarten A. Frens, I.F.M. de Coo, Casper C. Hoogenraad, H.J. Eussen, Carine Wouters, J M van Hagen, N. Van Camp, J.N. van der Geest, Johan J.P. Gille

Publikováno v: Neurobiology of Disease, 26(1), 112-124. Academic Press
Neurobiology of disease
Neurobiology of Disease, Vol 26, Iss 1, Pp 112-124 (2007)
van Hagen, J M, van der Geest, J N, van der Giessen, R S, Lagers-van Haselen, G C, Eussen, H J F M M, Gille, J J P, Govaerts, L C P, Wouters, C H, de Coo, I F M, Hoogenraad, C C, Koekkoek, S K E, Frens, M A, van Camp, N, van der Linden, A, Jansweijer, M C E, Thorgeirsson, S S & De Zeeuw, C I 2007, ' Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome ', Neurobiology of Disease, vol. 26, no. 1, pp. 112-24 . https://doi.org/10.1016/j.nbd.2006.12.009
Neurobiology of Disease, 26(1), 112-24. Academic Press Inc.

Williams Syndrome (WS, [MIM 194050]) is a disorder caused by a hemizygous deletion of 25-30 genes on chromosome 7q11.23. Several of these genes including those encoding cytoplasmic linker protein-115 (CYLN2) and general transcription factors (GTF2I a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::122204a1f70b7e2739592842808e287c
https://doi.org/10.1016/j.nbd.2006.12.009

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A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies

Autor: Michael B. Petersen, Deborah Bartholdi, George Kitsos, Marta Carrera, Geert Mortier, J M van Hagen, Irene Stolte-Dijkstra, Minna Männikkö, Leena Ala-Kokko, Katelijne Bouman, Jane A. Hurst, Dunja Niedrist, Mieke C. Bouma, Debbie Shears, Kristien Hoornaert, Koenraad Devriendt, Marja Majava

Publikováno v: American Journal of Medical Genetics. Part A, 143A(3), 258-264. Wiley

A series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly Suggestive of either Stickler syndrome (with ocular involvement) or Marshall syndrome were investigated for mutations i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8044459f98c3b68c45d98c9c14740186
https://doi.org/10.1002/ajmg.a.31586

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Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

Autor: R. H. Lekanne Deprez, J Hruda, J M van Hagen, J J Muurling-Vlietman, Irene Stolte-Dijkstra, Marielle Alders, Marieke J.H. Baars, Liliane C. D. Wijnaendts

Publikováno v: Journal of medical genetics, 43(10), 829-832. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS, 43(10), 829-832. BMJ PUBLISHING GROUP

Background: Idiopathic ( primary) hypertrophic cardiomyopathy (HCM) is mainly caused by mutations in genes encoding sarcomeric proteins. One of the most commonly mutated HCM genes is the myosin binding protein C (MYBPC3) gene. Mutations in this gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b1528f654af1fdc85fcd31ae6275704
https://doi.org/10.1136/jmg.2005.040329

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Autor: T. De Ravel, Marjolijn C.J. Jongmans, Livia Kapusta, Joris A. Veltman, Lisenka E.L.M. Vissers, B. B. A. De Vries, Han G. Brunner, C M A van Ravenswaaij, Dian Donnai, L. H. Hoefsloot, Annette F. Baas, A. Geurts van Kessel, K. van der Donk, Ronald J.C. Admiraal, J M van Hagen

Publikováno v: Journal of Medical Genetics, 43, 306-14
Journal of Medical Genetics, 43, 4, pp. 306-14

Contains fulltext : 51383.pdf (Publisher’s version ) (Closed access) BACKGROUND: CHARGE syndrome is a non-random clustering of congenital anomalies including coloboma, heart defects, choanal atresia, retarded growth and development, genital hypopla

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https://doi.org/10.1136/jmg.2005.036061

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Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: Clinical report and review of the literature

Autor: J M van Hagen, M H de Ru, Aggie W. M. Nieuwint, Johan J.P. Gille, J F van der Blij, J B Bijlsma

Publikováno v: de Ru, M H, Gille, J J P, Nieuwint, A W M, Bijlsma, J B, van der Blij, J F & van Hagen, J M 2005, ' Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay : clinical report and review of the literature ', American Journal of Medical Genetics Part A, vol. 137, no. 1, pp. 81-7 . https://doi.org/10.1002/ajmg.a.30786

We present a boy with blepharophimosis, ptosis, epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed a male karyotype with an interstitial deletion in the long arm of chromosome 3. DNA-analysis s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ccb77c4506eb023efd8a6a0d1dd0696
https://doi.org/10.1002/ajmg.a.30786

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Visual depth processing in Williams-Beuren syndrome

Autor: Eli Brenner, J.N. van der Geest, L. C. P. Govaerts, Maarten A. Frens, J M van Hagen, G.C. Lagers-van Haselen, I.F.M. de Coo

Publikováno v: Experimental Brain Research, 166(2), 200-209. Springer-Verlag

Patients with Williams-Beuren Syndrome (WBS, also known as Williams Syndrome) show many problems in motor activities requiring visuo-motor integration, such as walking stairs. We tested to what extent these problems might be related to a deficit in t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f01dfcb9df023860fee3b23918299e33
https://hdl.handle.net/1765/65004

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Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

Autor: Josée Dubois, Nicole Revencu, Paul N.M.A. Rieu, Miikka Vikkula, Anne Dompmartin, K O J Simola, S Halbach, J Lähde, Laurence M. Boon, Alma Kuechler, Laura Russell, W L Busch, Augusta M. A. Lachmeijer, F Forzano, J M van Hagen, John B. Mulliken

Publikováno v: Molecular syndromology, 4(4), 173-178. S. Karger AG
Revencu, N, Boon, L M, Dompmartin, A, Rieu, P, Busch, W L, Dubois, J, Forzano, F, van Hagen, J M, Halbach, S, Kuechler, A, Lachmeijer, A M A, Lahde, J, Russell, L, Simola, K O J, Mulliken, J B & Vikkula, M 2013, ' Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth ', Molecular syndromology, vol. 4, no. 4, pp. 173-178 . https://doi.org/10.1159/000349919

The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous loss-of-function RASA1 mutations were identified in patients with Parkes Weber syndrome and multifocal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ad600dcb9b4fdbaf1641c01753df4c5
https://research.vumc.nl/en/publications/f804f25d-6946-4206-82a0-b721a807ae8e

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