Results 221 to 230 of about 305,564 (250)

Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye. [PDF]

Mol Syndromol
Dinçsoy Bir F, Uyguner ZO, Karaman B, Baykal C, Büyükbabani N, Tüysüz B, Gedikbaşı A, Uyanık B, Toksoy G, Kara B, Kayserili H.   +10 more
europepmc   +1 more source

A Skull Bone Marrow‐to‐Brain Axis Links Osteoblastic Activity to Myeloid Cell Trafficking, Cerebral Blood Flow, and Cognition in Alzheimer's Progression

Advanced Science, EarlyView.
This study reveals that Alzheimer's disease–linked APP expression in bone‐forming cells drives skull bone marrow remodeling and alters its vascular connections to the brain. These changes disrupt immune cell trafficking, cerebral blood flow, and cognition. Targeting bone marrow macrophages restores brain function, highlighting a previously unrecognized
Lei Xiong, Dong Sun, Hao‐Han Guo, Daehoon Lee, Zhipeng Liu, Lin Mei, Wen‐Cheng Xiong   +6 more
wiley   +1 more source

Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation. [PDF]

Int J Mol Sci
Cipriano L, Ferrigno R, Andolfo I, Russo R, Cioffi D, Savanelli MC, Pellino V, Klain A, Iolascon A, Piscopo C.   +9 more
europepmc   +1 more source

Genotype-phenotype correlation in a cohort of pediatric patients with autoinflammatory diseases carrying <i>NOD2</i> variants. [PDF]

Front Immunol
Natale MF, Celani C, Federici S, Passarelli C, Perrone C, Marasco E, De Benedetti F, Insalaco A.   +7 more
europepmc   +1 more source

Genotype-Phenotype Correlation Insights Through Molecular Modeling Analysis in a Patient with Loeys-Dietz Syndrome. [PDF]

Genes (Basel)
Stathori G, Koniari E, Vlachakis D, Papanikolaou E, Chrousos GP, Yapijakis C.   +5 more
europepmc   +1 more source

Genotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans. [PDF]

PLoS One
Hwang S, Kang SW, Kim JW, Kim SJ.
europepmc   +1 more source

Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta [PDF]

J Clin Res Pediatr Endocrinol
Büyükyılmaz G, Çavdarlı B, Koca SB, Toksoy Adıgüzel K, Topaloğlu O, Aydın C, Hepsen S, Çakal E, Semerci Gündüz N, Boyraz M, Gürbüz F, Demirbilek H.   +11 more
europepmc   +1 more source

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Spectrum of mutations inMMACHC, allelic expression, and evidence for genotype–phenotype correlations

Human Mutation, 2009
Methylmalonic aciduria and homocystinuria, cblC type, is a rare disorder of intracellular vitamin B(12) (cobalamin [Cbl]) metabolism caused by mutations in the MMACHC gene. MMACHC was sequenced from the gDNA of 118 cblC individuals. Eleven novel mutations were identified, as well as 23 mutations that were observed previously.
Lerner-Ellis, J P, Anastasio, N, Liu, J, Coelho, D, Suormala, T, Stucki, M, Loewy, A D, Gurd, S, Grundberg, E, Morel, C F, Watkins, D, Baumgartner, Matthias R, Pastinen, T, Rosenblatt, D S, Fowler, B   +14 more
openaire   +3 more sources

Crigler-Najjar syndrome in The Netherlands: Identification of four novelUGT1A1alleles, genotype–phenotype correlation, and functional analysis of 10 missense mutants

Human Mutation, 2010
Crigler-Najjar syndrome (CN), caused by deficiency of UGT isoform 1A1 (UGT1A1), is characterized by severe unconjugated hyperbilirubinemia. In this study we have analyzed 19 CN patients diagnosed in The Netherlands (18) and in Belgium (1), and have identified 14 different UGT1A1 mutations, four of which are novel.
Sneitz, Nina, Bakker, Conny T., de Knegt, Robert J., Halley, Dicky J. J., Finel, Moshe, Bosma, Piter J.   +5 more
openaire   +4 more sources

Further genotype–phenotype correlations in neurofibromatosis 2

Clinical Genetics, 2009
SK Selvanathan, A Shenton, R Ferner, AJ Wallace, SM Huson, RT Ramsden, DG Evans   +6 more
openaire   +1 more source