Výsledky vyhledávání - "Grétel Oudesluijs"

Another Rare Prenatal Case of Post-Zygotic Mosaic Trisomy 17

Autor: Debora Lont, Malgorzata I. Srebniak, Diane Van Opstal, Jeroen Knijnenburg, Lutgarde C.P. Govaerts, Grétel Oudesluijs, Katja de Graaff, Maarten F. C. M. Knapen, Petra Noomen, Femke A. T. de Vries

Publikováno v: American Journal of Medical Genetics Part A, 161A(5), 1196-1199. Wiley-Liss Inc.

Another Rare Prenatal Case of Post-Zygotic Mosaic Trisomy 17 Femke A.T. de Vries, Lutgarde C.P. Govaerts, Jeroen Knijnenburg, Maarten F.C.M. Knapen, Gr etel G. Oudesluijs, Debora Lont, Petra Noomen, Katja de Graaff, Malgorzata I. Srebniak, and Diane

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c832169ea89bdce9b626143a3027db4c
https://doi.org/10.1002/ajmg.a.35867

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Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations

Autor: Hans R. Waterham, Grétel Oudesluijs, Raoul C.M. Hennekam, Marleen Simon, Rianne H.J. Burggraaf

Publikováno v: American journal of medical genetics. Part A, 158A(2), 292-297. Wiley-Liss Inc.

We describe a newborn girl with multiple congenital anomalies and abnormal phenotype comprising underdeveloped corpus callosum with ventriculomegaly, chorioretinal atrophy, pulmonary arterial hypertension, annular pancreas, horseshoe kidney, asymmetr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10e70e592c338b3a757f0fc991791f34
https://doi.org/10.1002/ajmg.a.34396

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Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

Autor: Marieke Joosten, Lutgarde C.P. Govaerts, Malgorzata I. Srebniak, Diane Van Opstal, Grétel Oudesluijs, Robert-Jan H. Galjaard, Marjan Boter

Publikováno v: European Journal of Human Genetics, 19(12), 1230-1237. Nature Publishing Group

We report on the validation and implementation of the HumanCytoSNP-12 array (Illumina) (HCS) in prenatal diagnosis. In total, 64 samples were used to validate the Illumina platform (20 with a known (sub) microscopic chromosome abnormality, 5 with kno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9761208db6cefcee613ca56beb82ffa8
https://doi.org/10.1038/ejhg.2011.119

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Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Publikováno v: Journal of Experimental Medicine
Journal of Experimental Medicine, 2016, 213 (7), pp.1163-1174. ⟨10.1084/jem.20151529⟩
Journal of Experimental Medicine, 213(7), 1163. Rockefeller University Press
Journal of Experimental Medicine, Rockefeller University Press, 2016, 213 (7), pp.1163-1174. ⟨10.1084/jem.20151529⟩
The Journal of Experimental Medicine
Meuwissen, M E C, Schot, R, Buta, S, Oudesluijs, G, Tinschert, S, Speer, S D, Li, Z, Van Unen, L, Heijsman, D, Goldmann, T, Lequin, M H, Kros, J M, Stam, W, Hermann, M, Willemsen, R, Brouwer, R W W, Van Ijcken, W F J, Martin-fernandez, M, De Coo, I, Dudink, J, De Vries, F A T, Bertoli Avella, A, Prinz, M, Crow, Y J, Verheijen, F W, Pellegrini, S, Bogunovic, D & Mancini, G M S 2016, ' Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome ', Journal of Experimental Medicine, vol. 213, no. 7, pp. 1163-1174 . https://doi.org/10.1084/jem.20151529
Journal of Experimental Medicine, 213(7), 1163-1174. Rockefeller University Press
The journal of experimental medicine

Meuwissen and collaborators define a novel genetic cause of pseudo-TORCH syndrome, which resembles the sequelae of congenital infection and represents a novel type I interferonopathy.
Pseudo-TORCH syndrome (PTS) is characterized by microcephaly,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7040e7dfd31e613b0d5518e700ac67cb
https://hal-pasteur.archives-ouvertes.fr/pasteur-02070980/document

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New cases of Bohring-Opitz syndrome, update, and critical review of the literature

Autor: Patrick Thierry, Dorothy K. Grange, Grétel Oudesluijs, Giuseppe Zampino, Axel Bohring

Publikováno v: American Journal of Medical Genetics. Part A. (12):1257-1263

We report on four additional unrelated cases of Bohring-Opitz syndrome with the highly characteristic phenotype of facial anomalies including bulging forehead over the metopic Suture, frontal nevus flammeus, exophthalmos, hypertelorism, upslanting pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae172bd3830317b59f3b497cb8d844b5
https://doi.org/10.1002/ajmg.a.31265

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A Novel Mutation Identified in the DFNA5 Gene in a Dutch Family: A Clinical and Genetic Evaluation

Autor: Patrick L. M. Huygen, G. van Duijnhoven, Hubertus P. H. Kremer, Mirjam W. J. Luijendijk, Grétel Oudesluijs, F.P.M. Cremers, Anne M. L. C. Bischoff, E.M.R. De Leenheer, C.W.R.J. Cremers, L. Van Laer

Publikováno v: Audiology and Neurotology. 9:34-46

A novel DFNA5 mutation was found in a Dutch family, of which 37 members were examined. A nucleotide substitution was identified in the splice acceptor site of intron 7, leading to skipping of exon 8 in part of the transcripts. The mutation was found

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4c690120ff66cfd968efc11c52518f76
https://doi.org/10.1159/000074185

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Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

Autor: Willy M. Nillesen, Ingrid M B M van de Laar, Brigitte H. W. Faas, Ellen A. Croonen, Inge B. Mathijssen, Marga Schepens, Helger G. Yntema, Hans Scheffer, Martina Ruiterkamp-Versteeg, Kyra E. Stuurman, Ineke van der Burgt, Grétel Oudesluijs, Charlotte W. Ockeloen, Liesbeth Martens

Publikováno v: Croonen, E A, Nillesen, W M, Stuurman, K E, Oudesluijs, G, van de Laar, I M B M, Martens, L, Ockeloen, C, Mathijssen, I B, Schepens, M, Ruiterkamp-Versteeg, M, Scheffer, H, Faas, B H W, van der Burgt, I & Yntema, H G 2013, ' Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings ', European Journal of Human Genetics, vol. 21, no. 9, pp. 936-942 . https://doi.org/10.1038/ejhg.2012.285
European Journal of Human Genetics, 21(9), 936-942. Nature Publishing Group
European Journal of Human Genetics, 21, 936-42
European Journal of Human Genetics, 21, 9, pp. 936-42
European journal of human genetics, 21(9), 936-942. Nature Publishing Group

Item does not contain fulltext In recent studies on prenatal testing for Noonan syndrome (NS) in fetuses with an increased nuchal translucency (NT) and a normal karyotype, mutations have been reported in 9-16% of cases. In this study, DNA of 75 fetus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a6b0e69cb4ab18f1f202a3c2719cf25
https://research.vumc.nl/en/publications/6b221ef1-dfc5-4791-97cc-dd08efe2ca21

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Phenotypic Variability of Atypical 22q11.2 Deletions Not Including TBX1

Autor: Diane Van Opstal, Karin E. M. Diderich, Grazia M.S. Mancini, Marja W. Wessels, Patrick Willems, Alex J. Eggink, Lorette O M Hulsman, Irene A.L. Groenenberg, Malgorzata I. Srebniak, Stella A. de Man, Frederik A. du Plessis, Judith M.A. Verhagen, Anna C. Verkleij-Hagoort, Laura J. C. M. van Zutven, Grétel Oudesluijs

Publikováno v: American Journal of Medical Genetics Part A, 158A(10), 2412-2420. Wiley-Liss Inc.

Interstitial deletions of the chromosome 22q11.2 region are the most common microdeletions in humans. The TBX1 gene is considered to be the major candidate gene for the main features in 22q11.2 deletion syndrome, including congenital heart malformati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a0d0b74cf664f2f07801e222b753c6d
https://pure.eur.nl/en/publications/e30b1828-8a44-4eb1-9c73-c69ed545e680

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Psychosocial aspects of preconception consulation in primary care: lessons from our experience in clinical genetics

Autor: Samantha Riedijk, Arend Tibben, Grétel Oudesluijs

Publikováno v: Journal of Community Genetics, 3, 213-219. Springer-Verlag
Journal of Community Genetics

To date, little is known about the psychosocial aspects of preconception consultation (PCC) in primary care. PCC in primary care is appropriate for couples and individuals with a reproductive wish. In PCC, non-genetic and genetic risk factors may be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f71eebbff246755a9a7ee7b8c240c28
https://pure.eur.nl/en/publications/e6550578-6f6f-4d10-a51b-ac9e63fd7a0d

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