Zobrazeno 1 - 10
of 21
pro vyhledávání: '"H. J. Eussen"'
Autor:
Bart C.J.M. Fauser, H. J. Eussen, Elena Martini, I. van den Berg, D. Van Opstal, Esther B. Baart
Publikováno v:
Prenatal Diagnosis, 27(1), 55-63. John Wiley & Sons Ltd.
Objective Screening for an increased number of chromosomes may improve the detection of abnormal embryos and thus contribute to the capability of preimplantation genetic screening (PGS) to detect the embryo(s) for transfer in IVF with the best chance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97f1e946ffab9303f281fce6a6021634
https://pure.eur.nl/en/publications/67009d2a-bace-423b-b435-7a616fe1fece
https://pure.eur.nl/en/publications/67009d2a-bace-423b-b435-7a616fe1fece
Publikováno v:
Clinical genetics. 65(5)
In this article, we describe a large five-generation family with characteristics of the Saethre-Chotzen syndrome as well as of the blepharophimosis ptosis epicanthus inversus syndrome. Segregating with their phenotype is a deletion of the chromosome
Publikováno v:
Journal of medical genetics, 40(2). BMJ Publishing Group
Journal of Medical Genetics, 40, 17-18. BMJ Publishing Group
Journal of Medical Genetics, 40, 17-18. BMJ Publishing Group
Tuberous sclerosis complex (TSC) is a genetic disorder characterised by hamartomatous growth abnormalities in many organs. Epilepsy and mental retardation, typical skin manifestations, intracerebral hamartoma, renal angiomyolipoma, and pulmonary lymp
Autor:
J O, Van Hemel, H J, Eussen
Publikováno v:
Human genetics. 107(5)
In five families with questionable chromosome rearrangements, we identified an interchromosomal insertion by fluorescent in situ hybridization (FISH). In case 1 with a dir ins (5;11)(p14;q14q24) in three generations, the mentally retarded and microce
Publikováno v:
Prenatal diagnosis. 13(9)
Fluorescent in situ Hybridization (FISH) was carried out for three cases of abnormal karyotypes in prenatal studies. Two concerned de novo structural anomalies and the third a marker chromosome. The origin of the extra material could be defined in al
Autor:
H. J. Eussen, D. J. J. Halley, J. O. Van Hemel, J. F. de Rijk-van Andel, Ben A. Oostra, M. F. Niermeijer
Publikováno v:
American journal of medical genetics. 40(3)
DNA markers YNZ22.1, YNH37.3, 144D6, and VAW508 were studied in five patients with the Miller-Dieker syndrome, 17 patients with the isolated lissencephaly sequence, one patient with a non-classified lissencephaly, and nine patients with an atypical c
Autor:
A. L. W. Janssen, A. M. W. Van Den Ouweland, Frederik J. Hes, Cornelis J.M. Lips, Danielle Majoor-Krakauer, R. B. van der Luijt, G. J. de Jong, R. A. Zewald, JW Lenders, H. J. Eussen, Rolf H. Sijmons, Gregorius P M Luyten, Thera P. Links, D. J. J. Halley, Peter L. Pearson
Publikováno v:
Clinical Genetics. 73:399-399
Autor:
Werneck Britto, Ingrid Schwach1, Silva Herbest, Sandra Regina1, Tedesco, Giselle Darahem1, Drummond, Carolina Leite1, Silva Bussamra, Luiz Claudio1, Júnior, Edward Araujo2 araujojred@terra.com.br, Ruano, Rodrigo3, Ruano, Simone Hernandez4, Aldrighi, José Mendes1
Publikováno v:
Case Reports in Obstetrics & Gynecology. 2014, p1-4. 4p.
Autor:
Al-Murrani, Amel1, Ashton, Fern1, Aftimos, Salim2, George, Alice M.1, Love, Donald R.1,3 donaldl@adhb.govt.nz
Publikováno v:
Case Reports in Genetics. 2012, p1-4. 4p.
Autor:
Van Hemel, J. O., Eussen, H. J.
Publikováno v:
Human Genetics; Nov2000, Vol. 107 Issue 5, p415-432, 18p