Holoprosencephaly: the Maastricht experience

Autor: Moog U, Ce, Die-Smulders, Ct, Schrander-Stumpel, Jj, Engelen, Aj, Hamers, Suzanna G.M. Frints, Jp, Fryns

Publikováno v: Europe PubMed Central

Holoprosencephaly (HPE) is a developmental field defect with impaired cleavage of the embryonic forebrain as the cardinal feature. The prevalence is about 1 in 11.000-20.000 in live births and 1 in 250 during embryogenesis. In most cases, craniofacia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f650b663d7f00214021b71bf99673689
https://pubmed.ncbi.nlm.nih.gov/11693794

Strong variable clinical presentation in 3 patients with 7q terminal deletion

Autor: Suzanna G.M. Frints, Ct, Schrander-Stumpel, Ef, Schoenmakers, Jj, Engelen, Ab, Reekers, Am, Den Neucker, Smeets E, Devlieger H, Jp, Fryns

Publikováno v: Europe PubMed Central

We report 3 patients with a 7q terminal deletion. The first, a 7 weeks old female, with a de novo 7q36--qter deletion, was microcephalic and had a partial hypoplasia of the corpus callosum on the MRI-scan of the brain. The second, a 3 months old male

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1e299d24cf8166e9642fb60aa9349434
https://pubmed.ncbi.nlm.nih.gov/9555580

The use of two different MLPA kits in 22q11.2 deletion syndrome.

Autor: Evers LJ; Koraalgroup, MFCG, Heel, The Netherlands; Governor Kremers Centre, Maastricht University Medical Centre, Maastricht, The Netherlands. Electronic address: revers@stanna.koraalgroep.nl., Engelen JJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Houben LM; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Curfs LM; Governor Kremers Centre, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands; CAPHRI, School for Public Health and Primary Care, Maastricht University, Maastricht, The Netherlands., van Amelsvoort TA; Department of Psychiatry and Psychology, Maastricht University, Maastricht, The Netherlands; Mondriaan Mental Healthcare, Heerlen, The Netherlands; Virenze Mental Healthcare, Gronsveld, The Netherlands.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2016 Apr; Vol. 59 (4), pp. 183-8. Date of Electronic Publication: 2016 Feb 24.

SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations.

Autor: van Uum CM; Departments of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Stevens SJ, Dreesen JC, Drüsedau M, Smeets HJ, Hollanders-Crombach B, Die-Smulders CE, Geraedts JP, Engelen JJ, Coonen E

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Sep; Vol. 20 (9), pp. 938-44. Date of Electronic Publication: 2012 Feb 29.

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.

Autor: Stevens SJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands. servi.stevens@mumc.nl, van Ravenswaaij-Arts CM, Janssen JW, Klein Wassink-Ruiter JS, van Essen AJ, Dijkhuizen T, van Rheenen J, Heuts-Vijgen R, Stegmann AP, Smeets EE, Engelen JJ

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2011 Nov; Vol. 155A (11), pp. 2739-45. Date of Electronic Publication: 2011 Oct 11.