Results 11 to 20 of about 305,564 (250)

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

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]

, 2014
We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S, Parks, W Tony, Rajkovic, Aleksandar, Saller, Devereux N, Yatsenko, Svetlana A   +4 more
core   +1 more source

Genetic analysis of Turner syndrome in Tunisian patients: from diagnosis to management

Journal of the Arab Society for Medical Research, 2023
Background/aim Turner syndrome (TS) is a rare sex chromosome abnormality in women, occurring in approximately one in 2500 live births, associated with a wide range of clinical stigmata of which short stature, ovarian dysgenesis, and dysmorphic features ...
Olfa Siala-Sahnoun, Fatma Laadhar, Mouna Mnif, Wajdi Sefi, Faten Hadj Kacem, Mohamed A Kessentini, Mohamed Abid, Faiza Fakhfakh   +7 more
doaj   +1 more source

Genotype-phenotype correlation in 22q11.2 deletion syndrome

BMC Medical Genetics, 2012
Background The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22q11.2 with highly variable physical and neuropsychiatric manifestations.
Michaelovsky Elena, Frisch Amos, Carmel Miri, Patya Miriam, Zarchi Omer, Green Tamar, Basel-Vanagaite Lina, Weizman Abraham, Gothelf Doron   +8 more
doaj   +1 more source

Genotype–Phenotype Correlation in a New Fabry-Disease-Causing Mutation

Medicina, 2019
Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation.
Agnė Čerkauskaitė, Rimantė Čerkauskienė, Marius Miglinas, Arvydas Laurinavičius, Can Ding, Arndt Rolfs, Lina Vencevičienė, Jūratė Barysienė, Edita Kazėnaitė, Eglė Sadauskienė   +9 more
doaj   +1 more source

Identification of causal genes for complex traits. [PDF]

, 2015
MotivationAlthough genome-wide association studies (GWAS) have identified thousands of variants associated with common diseases and complex traits, only a handful of these variants are validated to be causal.
Eskin, Eleazar, Hormozdiari, Farhad, Kichaev, Gleb, Pasaniuc, Bogdan, Yang, Wen-Yun   +4 more
core   +1 more source

Evolution of Thriftiness: An analytical viewpoint [PDF]

, 2008
We examine here, using a simple mathematical model, the conditions under which thrifty genes or fetal programming could evolve. Obesity and related disorders are thought to have their roots in metabolic thirftiness that evolved to combat periodic ...
Milind Watve, Prajakta Belsare
core   +2 more sources