Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Autor: Bijlsma, E.K., Gijsbers, A.C.J., Schuurs-Hoeijmakers, J.H.M., van Haeringen, A., Fransen van de Putte, D.E., Anderlid, B.-M., Lundin, J., Lapunzina, P., Pérez Jurado, L.A., Delle Chiaie, B., Loeys, B., Menten, B., Oostra, A., Verhelst, H., Amor, D.J., Bruno, D.L., van Essen, A.J., Hordijk, R., Sikkema-Raddatz, B., Verbruggen, K.T., Jongmans, M.C.J., Pfundt, R., Reeser, H.M., Breuning, M.H., Ruivenkamp, C.A.L.

Publikováno v: In European Journal of Medical Genetics 2009 52(2):77-87

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Autor: Bassett, A, McDonald McGinn, D, Devriendt, K, Digilio, M, Goldenberg, P, Habel, A, Marino, B, Oskarsdottir, S, Philip, N, Sullivan, K, Swillen, A, Vorstman, J, Abadie, V, Allgrove, J, Amati, F, Baker, K, Baylis, A, Beaujard, M, Beemer, F, Boers, M, Bolton, P, Boot, E, Brigstocke, S, Burtey, S, Campbell, L, Chabloz, M, Chow, E, Clayton Smith, J, Cubells, J, Debbané, M, Delrue, M, De Smedt, B, Duijff, S, Eicher, P, Emanuel, B, Evers, L, Flahault, A, Forsythe, A, Frebourg, T, Gennery, A, Goldmuntz, E, Gosling, A, Handler, S, Heine Suñer, D, Hilmarsson, A, Hogan, A, Hordijk, R, Howley, S, Illingworth, E, Jackson, O, Joyce, H, Kawame, H, Kelly, R, Kemp, A, Kempf, L, Kimpen, J, Kirschner, R, Klaassen, P, Kumararatne, D, Lambert, M, Lima, K, Lindsay, E, Macerola, S, Malki, M, Marlin, S, Mascarenhas, M, Monks, S, Moran, V, Morrow, B, Moss, E, Murphy, C, Naqvi, N, Nielsen, B, Niklasson, L, Nordgarden, H, Oenema Mostert, C, Ottet, M, Pasca, C, Pasquariello, P, Persson, C, Portnoi, M, Prasad, S, Rockers, K, Saitta, S, Scambler, P, Schaer, M, Schneider, M, Sell, D, Solot, C, Sommerlad, B, Unanue, N, Sundram, F, Van Aken, K, van Amelsvoort, T, van der Molen, A, Widdershoven, J, Zackai, E

Publikováno v: The Journal of pediatrics
The Journal of Pediatrics, Vol. 159, No 2 (2011) pp. 332-339.e1

A 12-year-old boy currently is followed by multiple sub-specialists for problems caused by the chromosome 22q11.2 deletion syndrome (22q11DS) (Figure). He was born via spontaneous vaginal delivery, weighing 3033 g, to a 31-year-old G3P3 mother after

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb35345d31e437ce264d6426a0cc9733
http://linkinghub.elsevier.com/retrieve/pii/S0022-3476(11)00244-7

Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype

Autor: Hordijk, R, Scheffer, H, Leegte, B, Hofstra, RMW, Stolte-Dijkstra, [No Value]

Publikováno v: JOURNAL OF MEDICAL GENETICS, 36(10), 782-785. BMJ PUBLISHING GROUP

Groningen, Ne report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)). At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome (PWS). He showed short stature, obesity, mild deve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::c052dd3064f7dddef2e51b96fd03dca5
https://research.rug.nl/en/publications/3b2b2a1e-d264-4eb5-9cb1-334e8dbf960d

Chorioretinal dysplasia-microcephaly-mental retardation syndrome: Another family with autosomal dominant inheritance

Autor: Hordijk, R, VandeLogt, F, Houtman, WA, VanEssen, AJ

Publikováno v: Genetic counseling, 7(2), 113-122

We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation syndrome (CDMMS). Our report extends the phenotypic spectrum of autosomal dominant CDMMS by describing microphthalmia for the first time in an autosomal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::42f27dbe4790cb4680ccf3d3bb2093fa
https://research.rug.nl/en/publications/c5a859cf-f427-4c8a-90ca-af6aec6379fa

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