Results 91 to 100 of about 47,631 (258)

Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. [PDF]

Am J Hum Genet, 2023
Green RC, Shah N, Genetti CA, Yu T, Zettler B, Uveges MK, Ceyhan-Birsoy O, Lebo MS, Pereira S, Agrawal PB, Parad RB, McGuire AL, Christensen KD, Schwartz TS, Rehm HL, Holm IA, Beggs AH, BabySeq Project Team.   +17 more
europepmc   +1 more source

Beta‐Thalassemia in Spain: Results From the National Thalassemia Registry and Molecular Analysis of Patients With Transfusion‐Dependent Thalassemia

Journal of Clinical Laboratory Analysis, EarlyView.
This nationwide registry‐based study describes the clinical and molecular characteristics of 78 patients with transfusion‐dependent beta‐thalassemia in Spain. Comprehensive genetic analysis revealed marked molecular heterogeneity, with 24 HBB mutations identified and a predominance of β0 genotypes, alongside generally effective transfusion and iron ...
Ana Villegas, Paloma Ropero, Fernando Ataulfo González, Marta Morado, María Menor, Silvia de la Iglesia, Montserrat López‐Rubio, Eduardo José Salido, Mariola Abío, María Leonor Senent, Valle Recasens, José Manuel Vagace, Cristina Fonte, Jesús María Hernández‐Rivas, José María Raya, Pablo Ríos, Valeria Luciana Peri, Keneth A. Herrera, María Concepción Tenorio, Laura Lo Riso, Juan Tena, María Angustias Molina, Miriam Vara, Isabel Rodríguez, Pilar Ricard, Miguel Gómez, Oana Popa Dusacovschi, Julia María Vidán, Jorge Groiss, Óscar Ferre, Irene Orbe, Rosa María López, Nazaret Ugalde, Manuela Inés Hidalgo, Cristina Hinojosa, Ana Isabel Rodríguez, Esther Herrera, María Josefa Murúzabal, María del Carmen Hernández, Josefa Esperanza Marco, Celina Benavente, Grupo Español de Eritropatología   +41 more
wiley   +1 more source

Genetic Determinants of Wound Healing: Monogenic Disorders and Polygenic Influence

Cells
(1) Background: Wound healing is a highly coordinated process encompassing hemostasis, inflammation, angiogenesis, keratinocyte migration, collagen deposition, and extracellular matrix remodeling.
Stephanie M. Mueller, Nalani Miller, Jasleen Gill, LaYow C. Yu, Michael Drake Pike, Dennis P. Orgill   +5 more
doaj   +1 more source

Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth. [PDF]

J Clin Invest, 2023
Hughes AE, De Franco E, Freathy RM, Fetal Insulin and Growth Consortium, Flanagan SE, Flanagan SE, Hattersley AT.   +6 more
europepmc   +1 more source

The safe and effective use of tofacitinib and ustekinumab combination therapy in infantile onset inflammatory bowel disease

JPGN Reports, EarlyView.
Abstract Infantile‐onset inflammatory bowel disease (IOIBD) is a rare and severe subset of very‐early‐onset IBD, often associated with immune dysregulation and poor response to conventional therapies. Data regarding the use of Janus kinase inhibitors (JAKI) in this population is limited.
Smridhi Mahajan, Christian Wysocki, Bhaskar Gurram   +2 more
wiley   +1 more source

Megaloblastic anaemia in infancy or early childhood and diabetes as leading symptoms of the TRMA syndrome [PDF]

Pediatric Endocrinology, Diabetes and Metabolism, 2012
Diabetes mellitus may occur in children and adolescents as an independent disease, most frequently as autoimmune type 1 diabetes, or can coexist with other abnormalities. If diabetes coincides with other disorders occurring sequentially, a syndromic form
Agnieszka Zmysłowska, Wojciech Młynarski   +1 more
doaj  

Frequency of embryos appropriate for transfer following preimplantation genetic testing for monogenic disease. [PDF]

J Assist Reprod Genet, 2022
Stocker E, Johal S, Rippel L, Darrah R.
europepmc   +1 more source

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes. [PDF]

Nat Commun, 2022
Halford JL, Morrill VN, Choi SH, Jurgens SJ, Melloni G, Marston NA, Weng LC, Nauffal V, Hall AW, Gunn S, Austin-Tse CA, Pirruccello JP, Khurshid S, Rehm HL, Benjamin EJ, Boerwinkle E, Brody JA, Correa A, Fornwalt BK, Gupta N, Haggerty CM, Harris S, Heckbert SR, Hong CC, Kooperberg C, Lin HJ, Loos RJF, Mitchell BD, Morrison AC, Post W, Psaty BM, Redline S, Rice KM, Rich SS, Rotter JI, Schnatz PF, Soliman EZ, Sotoodehnia N, Wong EK, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Sabatine MS, Ruff CT, Lunetta KL, Ellinor PT, Lubitz SA.   +44 more
europepmc   +1 more source

Genetic and Pathological Testing Attitudes for Parkinson's Disease in At‐Risk Relatives

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is increasingly recognized as a neurodegenerative disorder with a broad clinical spectrum and diverse biomarkers enabling early detection. α‐synuclein seed amplification assays (SAA) and genetic testing now allow identification of PD pathology in asymptomatic individuals.
Tal Weil, Anat Mirelman, Roy N. Alcalay, Nurit Omer, Penina Ponger, Avner Thaler   +5 more
wiley   +1 more source

Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid. [PDF]

Life (Basel), 2022
Vinciguerra M, Leto F, Cassarà F, Tartaglia V, Malacarne M, Coviello D, Cigna V, Orlandi E, Picciotto F, Cucinella G, Salzano E, Piccione M, Maggio A, Giambona A.   +13 more
europepmc   +1 more source