Results 241 to 250 of about 379,249 (335)

Chromosomal disorders and Bioethics

Arianna Omaña-Covarrubias, E. Mejia, Ana Teresa Nez Castro, Berta Pimentel Pérez, Lydia López Pontigo   +4 more
openalex   +2 more sources

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

, 2018
Laura Fontana, Maria Francesca Bedeschi, Silvia Maitz, Anna Cereda, Claudia Farè, S. Motta, Agostino Seresini, Pasqualina D’Ursi, Alessandro Orro, Vanna Pecile, Mariarosaria Calvello, Angelo Selicorni, Faustina Lalatta, Donatella Milani, Silvia Maria Sirchia, Monica Miozzo, Silvia Tabano   +16 more
openalex   +1 more source

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

Atypical case of Rett syndrome with concurrent <i>MECP2</i> gene mutation and del(15)(q22qter) karyotype: A case report and review of literature. [PDF]

World J Clin Pediatr
Fadl-Elmula I, Abdel-Raheem SY, Khalid R.   +2 more
europepmc   +1 more source

Additional file 5: of Disentangling the roles of maternal and paternal age on birth prevalence of down syndrome and other chromosomal disorders using a Bayesian modeling approach

, 2019
James Thompson
openalex   +1 more source

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri‐Weill Dyschondrosteosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko, Katerina Hirschfeldova, Pavlina Capkova, Roman Solc   +3 more
wiley   +1 more source

Clinical application value of targeted amplicon sequencing technology in fetuses with uniparental disomy-related imprinting disorders: a multicenter study. [PDF]

J Transl Med
Liu N, Huang S, Zhang B, Zhou Y, Jin C, Sun P, Yang L, Wang X, Hu Y, Jin H, Wang B, Chen S, Yang X, Li J, Sun X, Liu W, Wei Y, Mu K, Liu L, Feng Y, Shi P, Kong X.   +21 more
europepmc   +1 more source

Fertility issues and pregnancy outcomes in females with partial X-chromosome deletions: a retrospective observational cohort study. [PDF]

BMC Pregnancy Childbirth
Li XT, Dai Y, Chen JY, Cai MJ, Yao XM, Ge YS.   +5 more
europepmc   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

False Positive or False Negative-An Interesting Case in Prenatal Diagnostic Laboratory. [PDF]

J Clin Lab Anal
Zhang P, Sun Y, Tian H, Shi X, Rong L, Li Y.   +5 more
europepmc   +1 more source