Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Tiina Alitalo"'
Autor:
Erika Ignatius, Riina Puosi, Maarit Palomäki, Noora Forsbom, Max Pohjanpelto, Tiina Alitalo, Anna-Kaisa Anttonen, Kristiina Avela, Leena Haataja, Christopher J. Carroll, Tuula Lönnqvist, Pirjo Isohanni
Deleterious variants in the transcription factor early B-cell factor 3 (EBF3) are known to cause a neurodevelopmental disorder (EBF3-NDD). We report eleven individuals with EBF3 variants, including an individual with a duplication/triplication mosaic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2919903b1dd7d6c009bfb38f915347d3
http://hdl.handle.net/10138/344224
http://hdl.handle.net/10138/344224
Publikováno v:
Prenatal diagnosisREFERENCES. 41(4)
Objective To find out whether the diagnostic yield of prenatal array comparative genomic hybridization (aCGH) can be improved by targeting preselected high-risk pregnancies. Method All the in-house arrays ordered by the Fetomaternal Medical Center fr
Publikováno v:
Clinical Genetics. 32:192-195
A linkage study was carried out in nine families with 24 males affected by X-linked recessive retinoschisis (RS), using three polymorphic DNA probes from the distal segment of Xp. Close linkage of the disease locus with markers DXS41 (probe p99-6) an
Autor:
E.-M. Sankila, Bech-Hansen Nt, Tiina Alitalo, Isosomppi J, Maija Mäntyjärvi, Rose Tobias, R. Jalkanen
Publikováno v:
Journal of Medical Genetics. 43:699-704
Background: X linked cone-rod dystrophy (CORDX) is a recessive retinal disease characterised by progressive dysfunction of photoreceptors. It is genetically heterogeneous, showing linkage to three X chromosomal loci. CORDX1 is caused by mutations in
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2006, 14 (1), pp.55-62. ⟨10.1038/sj.ejhg.5201515⟩
European Journal of Human Genetics, Nature Publishing Group, 2006, 14 (1), pp.55-62. ⟨10.1038/sj.ejhg.5201515⟩
International audience; Hypomagnesemia with secondary hypocalcemia (HSH) is a rare inherited disease, characterised by neurological symptoms, such as tetany, muscle spasms and seizures, due to hypocalcemia. It has been suggested that HSH is genetical
Autor:
Huttunen J, Carlsson E, Tiina Alitalo, Henrik Forsius, Lauronen L, Tuupanen S, R. Jalkanen, Lindh S, E.-M. Sankila
Publikováno v:
British Journal of Ophthalmology. 89:820-824
Aim: To perform genealogical and clinical studies in Finnish families with X linked ocular albinism (OA1), including characterisation of the potential misrouting of optic fibres by evaluating visual evoked magnetic fields (VEFs), and to determine the
Publikováno v:
American Journal of Medical Genetics Part A. :290-295
We describe a 4-year-old boy with an accessory right thumb, short and broad toes, cryptorchidism, micrognathia, abnormally modeled ears, and delayed speech development. The chromosome analysis of patient's peripheral blood lymphocytes by conventional
Autor:
Terttu Myöhänen, Juhani Partanen, Maarit Peippo, Tiina Alitalo, Piia Nurmenniemi, Maija Mäntyjärvi
Publikováno v:
Acta Ophthalmologica Scandinavica. 79:359-365
Purpose: To study a large family with X-linked progressive cone-rod dystrophy. Methods: There were 128 members in the family. Of these, 45 had an ophthalmological examination and 3 gave their permission to use the results of their recent ophthalmolog
Publikováno v:
Human Mutation. 16:307-314
Over 100 distinct retinoschisis gene (RS1) mutations, of which approximately 10% are single exon deletions, have been described to date. In this paper we have characterized in detail two dissimilar RS1 gene deletions which are accountable for RS in o
Autor:
Anne Rantala, A. W. Eriksson, A de la Chapelle, Johan Fellman, Laura Huopaniemi, H. Forsius, Tiina Alitalo
Publikováno v:
Annals of Human Genetics. 63:521-533
Carriers of X-linked juvenile retinoschisis (RS) were previously suggested to give birth to an excess of boys. We determined the carrier status for the 214G > A mutation of the RS1 gene in 202 females belonging to a large RS founder pedigree. The sec