Results 11 to 20 of about 305,611 (291)

Genotype/phenotype correlation in hereditary spherocytosis

Haematologica, 2008
Red blood cells are biconcave under physiological conditions but their shape changes when navigating narrow blood vessels or confined spaces in tissue and organs (such as the spleen). The ability of a red cell to maintain its discoid shape, elasticity and deformability in the circulation ...
Achille Iolascon, Rosa Anna Avvisati
doaj   +4 more sources

Genotype-phenotype correlations in FSHD [PDF]

BMC Medical Genomics, 2019
Facial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. There are two types of the disease: FSHD1 (MIM:158900) and FSHD2 (MIM: 158901), which have different genetic causes but are phenotypically ...
Nikolay Zernov, Mikhail Skoblov
openaire   +3 more sources

Genotype–phenotype correlations in recessive titinopathies [PDF]

Genetics in Medicine, 2020
High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study was to (1) characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy
Savarese, Marco, Vihola, Anna, Oates, Emily C., Barresi, Rita, Fiorillo, Chiara, Tasca, Giorgio, Jokela, Manu, Sarkozy, Anna, Luo, Sushan, Diaz-Manera, Jordi, Ehrstedt, Christoffer, Rojas-Garcia, Ricardo, Saenz, Amets, Muelas, Nuria, Lonardo, Fortunato, Fodstad, Heidi, Qureshi, Talha, Johari, Mridul, Valipakka, Salla, Luque, Helena, Petiot, Philippe, de Munain, Adolfo Lopez, Pane, Marika, Mercuri, Eugenio, Torella, Annalaura, Nigro, Vincenzo, Astrea, Guja, Santorelli, Filippo Maria, Bruno, Claudio, Kuntzer, Thierry, Illa, Isabel, Vilchez, Juan J., Julien, Cedric, Ferreiro, Ana, Malandrini, Alessandro, Zhao, Chong-Bo, Casar-Borota, Olivera, Davis, Mark, Muntoni, Francesco, Hackman, Peter, Udd, Bjarne   +40 more
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PAX6 mutations: genotype-phenotype correlations [PDF]

BMC Genetics, 2005
Abstract Background The PAX6 protein is a highly conserved transcriptional regulator that is important for normal ocular and neural development. In humans, heterozygous mutations of the PAX6 gene cause aniridia (absence of the iris) and related developmental eye diseases.
Tzoulaki, I., White, I. M., Hanson, I. M.   +2 more
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Genotype–Phenotype Correlations in Angelman Syndrome [PDF]

Genes, 2021
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin–protein ligase E3A (UBE3A) on the chromosome 15q11–13 region. AS is characterized by global developmental delay, severe intellectual disability, lack of speech, happy disposition, ataxia, epilepsy, and distinct behavioral
Yang, Lili, Shu, Xiaoli, Mao, Shujiong, Wang, Yi, Du, Xiaonan, Zou, Chaochun   +5 more
openaire   +2 more sources

Genotype-phenotype correlation in pseudoxanthoma elasticum [PDF]

Atherosclerosis, 2021
Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable phenotypic variability. We investigated the association between the ABCC6 genotype and calcification and clinical phenotypes in these different organs.ABCC6 sequencing was performed in ...
Jonas W. Bartstra, Sara Risseeuw, Pim A. de Jong, Bram van Os, Lianne Kalsbeek, Chris Mol, Annette F. Baas, Shana Verschuere, Olivier Vanakker, Ralph J. Florijn, Jeroen Hendrikse, Willem Mali, Saskia Imhof, Jeannette Ossewaarde-van Norel, Redmer van Leeuwen, Wilko Spiering   +15 more
openaire   +4 more sources

Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion

Brain Sciences, 2020
The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities.
Manuela Lo Bianco, Davide Vecchio, Tiziana A. Timpanaro, Alessia Arena, Marina Macchiaiolo, Andrea Bartuli, Laura Sciuto, Santiago Presti, Sarah Sciuto, Annamaria Sapuppo, Agata Fiumara, Lidia Marino, Giulia Messina, Piero Pavone   +13 more
doaj   +1 more source

Genotype-phenotype correlation in patients with 21-hydroxylase deficiency

Frontiers in Endocrinology, 2023
Introduction21-hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia (CAH). However, patients with 21OHD manifest various phenotypes due to a wide-spectrum residual enzyme activity of different CYP21A2 mutations ...
Peng Tang, Jun Zhang, Song Peng, Yapeng Wang, Haoyang Li, Ze Wang, Yao Zhang, Yiqiang Huang, Jing Xu, Dianzheng Zhang, Qiuli Liu, Luofu Wang, Weihua Lan, Jun Jiang   +13 more
doaj   +1 more source

Expanding genotype-phenotype correlation of Kenny-Caffey syndrome type 1 [PDF]

Clinical and Experimental Pediatrics
Manuela Lo Bianco, Federica Sipala, Xena Giada Pappalardo, Gaia Fusto, Roberta Rizzo, Federico Favata, Carla Cimino, Silvia Marino, Martino Ruggieri, Agnese Suppiej, Simone Ronsisvalle, Raffaele Falsaperla   +11 more
doaj   +2 more sources

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients [PDF]

, 2019
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
Boarini, Manila, Celli, Mauro, Corsini, Serena, D'Eufemia, Patrizia, Gnoli, Maria, Maioli, Margherita, Mordenti, Marina, Pedrini, Elena, Sangiorgi, Luca, Tremosini, Morena, Versacci, Paolo, Zambrano, Anna   +11 more
core   +1 more source