Results 31 to 40 of about 1,853,756 (208)

Association study of suicidal behavior and affective disorders with a genetic polymorphism in ABCG1, a positional candidate on chromosome 21q22.3 [PDF]

, 2000
The gene that codes for the ABC transporter ABCG1 is located in a chromosomal susceptibility region (21q22.3) for affective disorders. Genetic variations in ABCG1 have been associated with affective disorders in Japanese males.
Bondy, Brigitta, Anghelescu, I., Dahmen, N., Szegedi, A., Gietl, A., Schäfer, M., Müller-Siecheneder, F., Möller, Hans-Jürgen, Rujescu, Dan, Giegling, Ina   +9 more
core   +1 more source

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Nature Communications, 2022
Discovering disease genes on the X chromosome can be particularly challenging. Here, the authors use features of known disease genes and machine learning to predict genes that remain to be associated with disorders on this chromosome.
Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P. A. Stegmann, Els K. Vanhoutte, Job A. J. Verdonschot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G. M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne   +36 more
doaj   +1 more source

Multicolor chromosome bar codes [PDF]

, 2006
Chromosome bar codes are multicolor banding patterns produced by fluorescence in situ hybridization (FISH) with differentially labeled and pooled sub-regional DNA probes.
Müller, Stefan, Wienberg, Johannes
core   +1 more source

Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders

Molecular Therapy: Methods & Clinical Development, 2020
Many human genetic diseases are associated with gross mutations such as aneuploidies, deletions, duplications, or inversions. For these “structural” disorders, conventional gene therapy, based on viral vectors and/or on programmable nuclease-mediated ...
Marianna Paulis, Lucia Susani, Alessandra Castelli, Teruhiko Suzuki, Takahiko Hara, Letizia Straniero, Stefano Duga, Dario Strina, Stefano Mantero, Elena Caldana, Lucia Sergi Sergi, Anna Villa, Paolo Vezzoni   +12 more
doaj   +1 more source

A Rare Case of Early-diagnosed Trisomy 13 Syndrome with Typical Semilobar Holoprosencephaly, Cyclopia, and Proboscis: A Case Report

Journal of Medical Sciences
Trisomy 13 syndrome is a lethal chromosomal disorder characterized by severe congenital anomalies. We report a case of trisomy 13 syndrome with semilobar holoprosencephaly, cyclopia, proboscis, omphalocele, and an absent nasal bone, prenatally diagnosed ...
Tzu-Rong Liu, Yi-An Kuo, Chi-Kang Lin
doaj   +1 more source

Chromosomal disorders and male infertility [PDF]

Asian Journal of Andrology, 2011
Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified.
Harton, Gary L., Tempest, Helen G., Ph.D.   +1 more
openaire   +3 more sources

Studies of JAK2 mutations in myeloproliferative disorders [PDF]

, 2008
Myeloproliferative disorders (MPD) are diseases characterized by clonal hematopoiesis with overprodution of mature cells from erythroid, megakaryocytic and myeloid lineages.
Li, Sai
core   +1 more source

A CASE OF DELETION OF CHROMOSOME 14q23.3 [PDF]

Euromediterranean Biomedical Journal, 2012
An interstitial deletion of the region q23.3 of chromosome 14 is described in a young male patient with epilepsy, mental retardation, behavioural disorders and severe impairments in social interaction and communication.
Nadia Imbrigiotta
doaj   +1 more source

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

Frontiers in Cell and Developmental Biology, 2023
Imprinting disorders are congenital diseases caused by dysregulation of genomic imprinting, affecting growth, neurocognitive development, metabolism and cancer predisposition. Overlapping clinical features are often observed among this group of diseases.
Laura Pignata, Francesco Cecere, Fabio Acquaviva, Emilia D’Angelo, Daniela Cioffi, Valeria Pellino, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Angela Sparago, Daniele De Brasi, Flavia Cerrato, Andrea Riccio, Andrea Riccio   +13 more
doaj   +1 more source

Frequency of Chromosome Disorders In Patients with Sperm Number Anomaly [PDF]

Objective: Chromosome abnormalities play an important role in male infertility. The rate of chromosome disorders in infertile men is higher as 5.8% when compared to the normal population (0.5%).
Mehmet Niyaz, Egzon Abdullahı, Zerrin Yılmaz Çelik   +2 more
core   +1 more source