Results 211 to 220 of about 114,005 (286)

Creative and Adaptive Solutions for Early Diagnosis of Sickle Cell Disease in Sub‐Saharan Africa

American Journal of Hematology, Volume 101, Issue S1, Page 17-32, April 2026.
ABSTRACT Many of the children with sickle cell disease born in sub‐Saharan Africa remain undiagnosed and untreated. Increasing capacity and infrastructure to support diagnostic and screening programs in high income countries have enabled near universal survival into adulthood.
Luke R. Smart, Catherine I. Segbefia, Isaac Odame   +2 more
wiley   +1 more source

Gene polymorphisms and occurrence of type 2 diabetes in a Gabonese population. [PDF]

Int J Biochem Mol Biol
Mbang Bengone AS, Nikiema-Ndong R, Batou AS, Nnegue Edzo E, Da Dari F, Ovono Abessolo F.   +5 more
europepmc   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 790-799, April 2026.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Identification of a Novel Rice Chromosomal Translocation Line that Could Cause the Heterozygote Semi-Sterility and be Overcome by Genomic Duplication. [PDF]

Rice (N Y)
Deng R, You H, Ge Q, Wu J, Cheng Z, Zhu L, Yu H, Chen L, Shahid MQ, Lu Z, Liu X.   +10 more
europepmc   +1 more source

Adances on polyploid breeding in yam D. alata [PDF]

, 2011
Arnau, Gemma, Maledon, Erick, Nudol, Elie, Némorin, Alice   +3 more
core  

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 923-928, April 2026.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Clinical and Hematological Characteristics of Vietnamese Heterozygous Hb Tak/β-Thalassemia Patients: A Four-Case Series. [PDF]

Mediterr J Hematol Infect Dis
Nguyen TC, Nguyen TTH, Phi TNA, Le XH, Vu DL, Nguyen ND.   +5 more
europepmc   +1 more source

Disclosing to parents newborn carrier status identified by routine blood spot screening [PDF]

, 2004
Dezateux, Carol, Kavanagh, Josephine, Lempert, Tami, Oliver, Sandy, Stewart, Ruth   +4 more
core   +1 more source

Refining Detection of Subclinical Epileptiform Activity in Alzheimer's Disease: A Case–Control Study and Call for a Consensus

Annals of Neurology, Volume 99, Issue 4, Page 1046-1058, April 2026.
[Color figure can be viewed at www.annalsofneurology.org] Objective Sleep‐predominant network hyperexcitability is increasingly recognized as a potential disease‐accelerating comorbidity in Alzheimer's disease (AD). However, its prevalence and risk‐factors remain debated, largely due to cohort‐specific and methodological differences across studies.
Anna B. Szabo, Jonathan Curot, Fleur Gérard, Florence Rulquin, Rachel Debs, Claire Georges, Marie Denuelle, Amel Bouloufa, Béatrice Lemesle, Patrice Péran, Claire Thalamas, Emmanuel J. Barbeau, Jérémie Pariente, Lionel Dahan, Luc Valton   +14 more
wiley   +1 more source

Fishing for novel HDAC inhibitor compounds to treat Duchenne muscular dystrophy. [PDF]

Mol Ther Nucleic Acids
English KG, Alexander MS.
europepmc   +1 more source