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Autor: M. L. Kwee, Fré Arwert, K. Madan, P. G. Barth

Publikováno v: Clinical Genetics. 26:150-155

We report a three-year-old male child with dysmorphy, severe mental retardation and a mosaic tetrasomy 21 caused by an extra F-like chromosome composed of two long arms of chromosome 21. We have compared this unusual case with two other similar publi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a199228c8141aaa652a93a4a457429
https://doi.org/10.1111/j.1399-0004.1984.tb00805.x

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Kabuki syndrome – Report of six cases and review of the literature with emphasis on ocular features

Autor: M. Warburg, M. L. Kwee, Pierre Bitoun, D.B. van Dorp, Annick Toutain, I. Kluijt, K. Keppler-Noreuil

Publikováno v: Ophthalmic Genetics. 21:51-61

Six cases of Kabuki syndrome (KS) with ocular anomalies are reported and the variety of ocular features reported in the literature for this syndrome is described. Routine ocular examinations are recommended for every patient with KS because of the hi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14ac2f32cb6e8e0c5af7fd8e5bdbf38d
https://doi.org/10.1076/1381-6810(200003)2111-ift051

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An atypical case of Fanconi anemia in elderly sibs

Autor: Hans Joenje, M. L. Kwee, L. P. Ten Kate, J. H. Begeer, Fré Arwert, J. M. van der Kleij, A. J. van Essen

Publikováno v: American Journal of Medical Genetics, 68(3), 362-366. WILEY-LISS

We describe a 56-year-old woman suspected of Fanconi anemia on the basis of the following clinical findings: microcephaly, short stature, congenital deafness, and the clinical findings in her deceased brother. Hematologic or other signs of malignancy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::875591fdd6a9b8ae939b0d7ed0d83509
https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<362::aid-ajmg21>3.0.co

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EARLY PRENATAL DIAGNOSIS OF FANCONI ANAEMIA IN A TWIN PREGNANCY, USING DNA ANALYSIS

Autor: P. A. In 'T Veld, K. Madan, A. R. Van Der Horst, Nieuwint Aw, L. P. Ten Kate, Fré Arwert, J.M.G. van Vugt, G. Pals, J.R. Lo Ten Foe, M. L. Kwee

Publikováno v: Prenatal Diagnosis. 16:345-348

We present a case of prenatal diagnosis of Fanconi anaemia (FA) in a pair of twins at 14 weeks of gestation. The parents had previously had two children: a healthy boy and a boy with FA belonging to complementation group C (FAC). The FA patient is a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3c7504a487dd94a9bb1937eb6e9c0873
https://doi.org/10.1002/(sici)1097-0223(199604)16:4<345::aid-pd852>3.0.co

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Tuberous sclerosis Diagnostic problems in a family

Autor: D. B. van Dorp, M. L. Kwee

Publikováno v: Ophthalmic Paediatrics and Genetics. 11:95-101

This paper describes a family in which the first child, a girl born in 1988, has tuberous sclerosis (TS). The 28-year-old mother had no symptoms of TS but at ocular examination she presented with progressively increasing prominence of the optic nerve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e710ca679cf85e88855f6b81dfe3cf9e
https://doi.org/10.3109/13816819009012953

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Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features

Autor: I, Kluijt, D B, van Dorp, M L, Kwee, A, Toutain, K, Keppler-Noreuil, M, Warburg, P, Bitoun

Publikováno v: Ophthalmic genetics. 21(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a0686f424dbdbc0bb75802c2562f8cbf
https://pubmed.ncbi.nlm.nih.gov/10779849

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Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

Publikováno v: Scopus-Elsevier
Wijker, M, Morgan, N V, Herterich, S, van Berkel, C G, Tipping, A J, Gross, H J, Gille, J J, Pals, G, Savino, M, Altay, C, Mohan, S, Dokal, I, Cavenagh, J, Marsh, J, van Weel, M, Ortega, J J, Schuler, D, Samochatova, E, Karwacki, M, Bekassy, A N, Abecasis, M, Ebell, W, Kwee, M L, de Ravel, T & CG Mathew 1999, ' Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene ', European Journal of Human Genetics, vol. 7, no. 1, pp. 52-59 . https://doi.org/10.1038/sj.ejhg.5200248
European Journal of Human Genetics, 7(1), 52-59. Nature Publishing Group

Fanconi anaemia (FA) is a genetically heterogeneous autosomal recessive disorder associated with chromosomal fragility, bone-marrow failure, congenital abnormalities and cancer. The gene for complementation group A (FAA), which accounts for 60-65% of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0178eb726b31f24197f9148b09273ca
https://biblio.vub.ac.be/vubir/heterogeneous-spectrum-of-mutations-in-the-fanconi-anaemia-group-a-gene(d472a8a5-ef6b-4e61-a8b9-d54f55f84bb5).html

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