Zobrazeno 1 - 10
of 1 332
pro vyhledávání: '"Jp, Fryns"'
Autor:
M Zivna, H Hulkova, M Matignon, K Hodanova, P Vylet'al, M Kalbacova, V Baresova, J Sikora, H Blazkova, J Zivny, R Ivanek, V Stranecky, J Sovova, K Claes, E Lerut, JP Fryns, PS Hart, TC Hart, JN Adams, A Pawtowski, M Clemessy, JM Gasc, MC Gubler, C Antignac, M Elleder, K Kapp, P Grimbert, AJ Bleyer, S Kmoch
Publikováno v:
Clinical Journal of the American Society of Nephrology. 5:563-567
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b6f292e5297caac0d3983f473e5e2dc
https://doi.org/10.2215/01.cjn.0000927108.86094.d2
https://doi.org/10.2215/01.cjn.0000927108.86094.d2
Publikováno v:
Europe PubMed Central
Congenital adducted thumb has been called variously as congenital clasped thumb, thumb in palm deformity or flexion adduction deformity of the thumb. This condition can be an isolated anomaly or associated with several genetic disorders. The syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::bc3732438a866ee70ec0489a71ba9dc3
https://pubmed.ncbi.nlm.nih.gov/25059014
https://pubmed.ncbi.nlm.nih.gov/25059014
Publikováno v:
Europe PubMed Central
Fine mapping of deletion regions in autistic patients represents a valuable screening tool for identifying candidate genes for autism. A number of studies have ascertained associations between autism and terminal 2q deletion with the breakpoint withi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d15e8f0fae37a053b22b339612e2fb33
https://pubmed.ncbi.nlm.nih.gov/15517821
https://pubmed.ncbi.nlm.nih.gov/15517821
Publikováno v:
Europe PubMed Central
Clinical and cytogenetical findings are reported and discussed on two siblings with discordant phenotypes despite having both a terminal 11q deletion and a distal 12q duplication resulting from an unbalanced segregation of a balanced translocation t(
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c534b9a22a16d3f4adf339b9f590bcb7
https://pubmed.ncbi.nlm.nih.gov/12872809
https://pubmed.ncbi.nlm.nih.gov/12872809
Publikováno v:
Europe PubMed Central
A male patient is reported with terminal 10q26 deletion, developmental retardation, special behaviour, and multiple clinical anomalies including hypotonia, short stature of postnatal onset, short webbed neck, craniofacial dysmorphism, pectus excavatu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::646ff8819dd7435be76abde4a71269ec
https://pubmed.ncbi.nlm.nih.gov/12558112
https://pubmed.ncbi.nlm.nih.gov/12558112
Publikováno v:
Europe PubMed Central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ebaa1dac61f38174fe0731f4828a5229
https://pubmed.ncbi.nlm.nih.gov/12150222
https://pubmed.ncbi.nlm.nih.gov/12150222
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
https://pubmed.ncbi.nlm.nih.gov/11693794
Publikováno v:
Europe PubMed Central
A 10-year-old mentally retarded boy with terminal 6q25 deletion, dysmorphism and striking abnormal behaviour is reported. The main abnormal physical features recorded at different ages consisted of hydrocephalus, axial hypotonia, absence of spontaneo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c981c9100de6579a2124dd5bd4cf6ed9
https://pubmed.ncbi.nlm.nih.gov/11693783
https://pubmed.ncbi.nlm.nih.gov/11693783
Publikováno v:
Europe PubMed Central
A child with monosomy for the distal part of the short arm of chromosome 3 (3p25--pter) and trisomy for the terminal portion of the long arm of chromosome 17 (17q23--qter) is presented. This unbalanced karyotype was derived from a balanced reciprocal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4938bb1f93bd75189ce5bf7635eb27b3
https://pubmed.ncbi.nlm.nih.gov/10434122
https://pubmed.ncbi.nlm.nih.gov/10434122
Publikováno v:
Europe PubMed Central
Two families with nonspecific X-linked mental retardation (MRX) are presented. In the first family, MRX51, three male patients showed mild to borderline mental retardation. Multipoint linkage analysis yielded a maximal LOD score of 2.10 between marke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::85c978713efd8dcc31e16cfe93310aca
https://pubmed.ncbi.nlm.nih.gov/10398244
https://pubmed.ncbi.nlm.nih.gov/10398244