Results 161 to 170 of about 35,482 (247)

Spatio-temporal dynamics of pathogenic variants associated with monogenic disorders reconstructed with ancient DNA. [PDF]

PLoS One, 2022
Toncheva D, Marinova M, Borovska P, Serbezov D.   +3 more
europepmc   +1 more source

Combined Preimplantation Genetic Testing for Aneuploidy (PGT-A) and Monogenic Disorders (PGT-M) to Prevent Autosomal Dominant Polycystic Kidney Disease After Kidney Transplant. [PDF]

Cureus
Elbanna W, Azmy O, Elhinnawi MA.
europepmc   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Preimplantation genetic testing for monogenic disorders to prevent MSH6 germline pathogenic variant related colorectal cancer. [PDF]

BMC Cancer
Wang W, Zhou Z, Cheng X, Chen L, Jing J, Chen C, Dong J, Chen H, Ma J, Yao B.   +9 more
europepmc   +1 more source

Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen, Mariana Kruger, Marc Blockman, Jo M. Wilmshurst   +3 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Paediatric‐onset autoimmune cytopenia: How can we reduce the long‐term mortality?

British Journal of Haematology, EarlyView.
Nathalie Aladjidi, Thierry Leblanc, Helder Fernandes, Capucine Picard, Jacinta Bustamante, Frédéric Rieux‐Laucat, Mathieu Fusaro, Maud Tusseau, Charlotte Durand‐Teyssier, Emma Cohendy, Jérôme Granel, Stéphane Ducassou, Agathe Escudier, Despina Moshous, Marc Michel, Bertrand Godeau, Sébastien Héritier, Mony Fahd, Brigitte Bader‐Meunier, Alain Fischer, Guy Leverger, All collaborators from the French Paediatric Haemato‐Immunologic CEREVANCE Network   +21 more
wiley   +1 more source

Survodutide for the Treatment of Obesity Disease in Japanese Participants: Rationale, Design and Baseline Characteristics of the Phase 3 SYNCHRONIZE‐JP Trial

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims There is an unmet need for effective pharmacotherapy for obesity disease management in Japan. Survodutide is a novel glucagon receptor/glucagon‐like peptide‐1 receptor (GLP‐1R) dual agonist with the potential to induce greater weight reductions than GLP‐1R mono‐agonists. We report the design and baseline participant characteristics of the
Koutaro Yokote, Toshimasa Yamauchi, Yasushi Fukushima, Yoji Takatsuka, Marie Kato, Shijia Yan, Takayoshi Inoue, Luiza Borowska, Martina Brueckmann, Wataru Ogawa, on behalf of the SYNCHRONIZE‐JP Trial Investigators   +10 more
wiley   +1 more source

Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing. [PDF]

Genet Med
Mitchel MW, Oetjens M, Berry ASF, Johns A, Moreno-De-Luca A, Torene RI, Strande NT, DiStefano MT, Dyer LH, Brandt T, Finucane BM, Ledbetter DH, Retterer K, Martin CL, Myers SM.   +14 more
europepmc   +1 more source

Case Report: Clinical manifestations of uncommon monogenic disorders: revisiting activated phosphoinositide 3-kinase delta syndrome 2. [PDF]

Front Pediatr
Shamriz O, Mandola A, Simon AJ, Lev A, Attal P, Nadler C, Barel O, Khavkin Y, Eisenberg R, Somech R, Toker O.   +10 more
europepmc   +1 more source