Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Pia, Pohjola"'
Autor:
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-in
Externí odkaz:
https://doaj.org/article/0358fc56f6054b188a138c71c996e968
Publikováno v:
Clinical Case Reports, Vol 9, Iss 8, Pp n/a-n/a (2021)
Abstract Exome sequencing revealed the cause of our 35‐year‐old male patient's progressive and severe intellectual and motor disability, namely a previously undescribed missense mutation of MECP2.
Externí odkaz:
https://doaj.org/article/93e9b53cbc4b493e904e6bc88fff204d
Autor:
Kjell Helenius, Liisa Ojala, Leena Kainulainen, Sirkku Peltonen, Marja Hietala, Pia Pohjola, Vilhelmiina Parikka
Publikováno v:
European Journal of Medical Genetics. 66:104735
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9ed687bef6efdc144765ad5983744bb
https://doi.org/10.1016/j.ejmg.2023.104735
https://doi.org/10.1016/j.ejmg.2023.104735
Autor:
Minna, Kraatari-Tiri, Maria K, Haanpää, Tytti, Willberg, Pia, Pohjola, Riikka, Keski-Filppula, Outi, Kuismin, Jukka S, Moilanen, Sanna, Häkli, Elisa, Rahikkala
Publikováno v:
Journal of clinical medicine. 11(7)
Sensorineural hearing loss (SNHL) is one of the most common sensory deficits worldwide, and genetic factors contribute to at least 50-60% of the congenital hearing loss cases. The transmembrane channel-like protein 1 (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::698bbbcbb8e6ea2bdeab450608042e38
https://pubmed.ncbi.nlm.nih.gov/35407445
https://pubmed.ncbi.nlm.nih.gov/35407445
Autor:
Riitta Parkkola, Jaakko Matomäki, Leena Haataja, Milla Ylijoki, Mari Mahlman, Mikko Hallman, Helena Lapinleimu, Miikka Korja, Hellevi Rikalainen, Pia Pohjola, Tuula Kaukola, H. Kuśmierek, Liisa Lehtonen
Publikováno v:
Genes, Brain and Behavior. 12:348-352
Apolipoprotein E plays an important role in neurodegenerative processes in adulthood, whereas its neurodevelopmental role is uncertain. We aimed to study the effect of apolipoprotein E on neurodevelopment in a cohort liable to neurodevelopmental chan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7cc8d8e82c3c023ccf9bad7e6108d85
https://doi.org/10.1111/gbb.12024
https://doi.org/10.1111/gbb.12024
Publikováno v:
Genetic Testing and Molecular Biomarkers; Vol 16
It is often the case that the genetic background of a rare disease has been solved, but the testing of a clinical patient can be performed only through research projects. Translating a research-based test into diagnostic service may also appear labor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65cfd2f98b5ec1ed53d0c653887ba13c
Publikováno v:
European journal of human genetics : EJHG. 24(11)
As the availability of genetic tests has grown rapidly during the last decade along with the increasing knowledge of the genetic background of rare inherited diseases, sending DNA samples to another country for analysis has become more of a routine t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfe8bf93f5725d7eebed504bb9a94bd7
https://pubmed.ncbi.nlm.nih.gov/27381091
https://pubmed.ncbi.nlm.nih.gov/27381091
Publikováno v:
American Journal of Medical Genetics Part A. :2409-2414
The major diagnostic manifestations in Sotos syndrome include frontal bossing, downward slanting palpebral fissures, a prominent jaw, learning disability, and childhood overgrowth. Over 90% of clinically diagnosed patients have an abnormality in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a6e732eed6c57ffe0d884e647cface
https://doi.org/10.1002/ajmg.a.33062
https://doi.org/10.1002/ajmg.a.33062