Zobrazeno 1 - 10
of 196
pro vyhledávání: '"Ann Nordgren"'
Autor:
Elizabeth Emma Palmer, Helene Cederroth, Mikk Cederroth, Angelica Maria Delgado-Vega, Natalie Roberts, Fulya Taylan, Ann Nordgren, Lorenzo D. Botto
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-7 (2024)
Abstract Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized health care. However, barriers to rare disease diagnoses are especially steep for those from
Externí odkaz:
https://doaj.org/article/9b92d41d8a6c46049490babb179131fb
Autor:
Olga Krali, Yanara Marincevic-Zuniga, Gustav Arvidsson, Anna Pia Enblad, Anders Lundmark, Shumaila Sayyab, Vasilios Zachariadis, Merja Heinäniemi, Janne Suhonen, Laura Oksa, Kaisa Vepsäläinen, Ingegerd Öfverholm, Gisela Barbany, Ann Nordgren, Henrik Lilljebjörn, Thoas Fioretos, Hans O. Madsen, Hanne Vibeke Marquart, Trond Flaegstad, Erik Forestier, Ólafur G. Jónsson, Jukka Kanerva, Olli Lohi, Ulrika Norén-Nyström, Kjeld Schmiegelow, Arja Harila, Mats Heyman, Gudmar Lönnerholm, Ann-Christine Syvänen, Jessica Nordlund
Publikováno v:
npj Precision Oncology, Vol 7, Iss 1, Pp 1-13 (2023)
Abstract Genomic analyses have redefined the molecular subgrouping of pediatric acute lymphoblastic leukemia (ALL). Molecular subgroups guide risk-stratification and targeted therapies, but outcomes of recently identified subtypes are often unclear,
Externí odkaz:
https://doaj.org/article/7542b6ffc9a04cf2bdda7eb58e446d0d
Autor:
Ela Curic, Lisa Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D. Botto, Ann Nordgren, William Gahl, Elizabeth Emma Palmer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-15 (2023)
Abstract Over the last 15 years, Undiagnosed Diseases Programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases, integrating research and clinical care to optimize diagnostic outcomes.
Externí odkaz:
https://doaj.org/article/2c3c80d58dd945c1b647c7d3b1dfd30b
Autor:
Prince Jacob, Hillevi Lindelöf, Cecilie F. Rustad, Vernon Reid Sutton, Shahida Moosa, Prajna Udupa, Anna Hammarsjö, Gandham SriLakshmi Bhavani, Dominyka Batkovskyte, Kristian Tveten, Ashwin Dalal, Eva Horemuzova, Ann Nordgren, Emma Tham, Hitesh Shah, Else Merckoll, Laura Orellana, Gen Nishimura, Katta M. Girisha, Giedre Grigelioniene
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-10 (2023)
Abstract Spondyloepimetaphyseal dysplasia with severe short stature, RPL13-related (SEMD-RPL13), MIM#618728), is a rare autosomal dominant disorder characterized by short stature and skeletal changes such as mild spondylar and epimetaphyseal dysplasi
Externí odkaz:
https://doaj.org/article/7fd8ea3e8a5a439794ea10065835754b
Autor:
Johan Lundin Kleberg, Astrid E. Z. Hallman, Martyna A. Galazka, Deborah M. Riby, Sven Bölte, Charlotte Willfors, Christine Fawcett, Ann Nordgren
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Typically developing humans automatically synchronize their arousal levels, resulting in pupillary contagion, or spontaneous adaptation of pupil size to that of others. This phenomenon emerges in infancy and is believed to facilitate social
Externí odkaz:
https://doaj.org/article/2a1cbbb3a4dc43df9ba1cfac7b420c7d
Autor:
Hanna Björlin Avdic, Claes Strannegård, Hedvig Engberg, Charlotte Willfors, Ida Nordgren, Louise Frisén, Angelica Lindén Hirschberg, Mona Guath, Ann Nordgren, Johan Lundin Kleberg
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract Turner syndrome is a genetic condition caused by a complete or partial loss of one of the X chromosomes. Previous studies indicate that Turner syndrome is associated with challenges in social skills, but the underlying mechanisms remain larg
Externí odkaz:
https://doaj.org/article/3a471176cc094b27a8ceb37afa52cfed
Autor:
Hannes Runheim, Maria Pettersson, Anna Hammarsjö, Ann Nordgren, Martin Henriksson, Anna Lindstrand, Lars-Åke Levin, Maria Johansson Soller
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
Abstract Whole genome sequencing (WGS) has the potential to be a comprehensive genetic test, especially relevant for individuals with neurodevelopmental disorders, syndromes and congenital malformations. However, the cost consequences of using whole
Externí odkaz:
https://doaj.org/article/ed547b24e60847ae8691c1c9643cc7ce
Autor:
Johan Lundin Kleberg, Charlotte Willfors, Hanna Björlin Avdic, Deborah Riby, Martyna A. Galazka, Mona Guath, Ann Nordgren, Claes Strannegård
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Williams syndrome (WS) is a rare genetic condition characterized by high social interest and approach motivation as well as intellectual disability and anxiety. Despite the fact that social stimuli are believed to have an increased intrinsic
Externí odkaz:
https://doaj.org/article/78f9795ba295482dababef0c7b2f4e75
Autor:
Carolina Maya-González, Sandra Wessman, Kristina Lagerstedt-Robinson, Fulya Taylan, Bianca Tesi, Ekaterina Kuchinskaya, W. Glenn McCluggage, Anna Poluha, Stefan Holm, Ricard Nergårdh, Teresita Díaz De Ståhl, Charlotte Höybye, Giorgio Tettamanti, Angelica Maria Delgado-Vega, Anna Skarin Nordenvall, Ann Nordgren
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Prader-Willi syndrome (PWS) is a rare disease caused by a lack of expression of inherited imprinted genes in the paternally derived Prader-Willi critical region on chromosome 15q11.2-q13. It is characterized by poor feeding and hypotonia in infancy,
Externí odkaz:
https://doaj.org/article/4621862bc38343c7ac090d169ff55210
Autor:
Sen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, Yuzhi Zuo, Xiaoxin Li, Dominyka Batkovskyte, Sen Liu, Hillevi Lindelöf, Shengru Wang, Anna Hammarsjö, Yang Yang, Yongyu Ye, Lianlei Wang, Zihui Yan, Jiachen Lin, Chenxi Yu, Zefu Chen, Yuchen Niu, Huizi Wang, Zhi Zhao, Pengfei Liu, Guixing Qiu, Jennifer E. Posey, Zhihong Wu, James R. Lupski, Ieva Micule, Britt-Marie Anderlid, Ulrika Voss, Dennis Sulander, Ekaterina Kuchinskaya, Ann Nordgren, Ola Nilsson, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Terry Jianguo Zhang, Giedre Grigelioniene, Nan Wu
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)
Abstract Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndromes types 1A and 1B. These disorders are ultra-rare and their natural course and phenotypic v
Externí odkaz:
https://doaj.org/article/0de9e51627714482a09108f93d1360a8