Results 61 to 70 of about 8,371 (167)
Journal of Neuroendocrinology, Volume 36, Issue 9, September 2024.Pharmacological chaperones (PC's) are an emerging class of cell permeant small molecules that can stabilise the folding of misfolded variant proteins, thus restoring function. G protein‐coupled receptors (GPCRs) are a family of plasma membrane associated receptors that have been shown to be amenable to PC rescue.
Tarryn Radomsky +3 more
wiley +1 more source
An open‐source implementation of tree‐based scan statistics
Pharmacoepidemiology and Drug Safety, Volume 33, Issue 3, March 2024.Abstract Purpose We develop an open‐source R package to implement tree‐based scan statistics (TBSS) analyses. Methods TBSS are data mining methods used by the United States Food and Drug Administration and the Centers for Disease Control. They simultaneously screen thousands of hierarchically aggregated outcomes to identify unsuspected adverse effects ...
Massimiliano Russo, Shirley V. Wang
wiley +1 more source
Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.
, 1995 Genital abnormalities have been noted in several patients with the X-linked form of alpha-thalassemia and mental retardation syndrome (ATR-X). The initial clinical report of the condition documented a phenotypic female with 46,XY karyotype.
R. M. Winter +7 more
core +1 more source
Persistent mullerian duct syndrome with testicular seminoma in transverse testicular ectopia
Journal of Human Reproductive Sciences, 2018 Persistent Mullerian Duct Syndrome (PMDS) is a disorder of male pseudohermaphroditism characterized by the persistence of Mullerian duct derivatives (uterus, fallopian tubes, and upper two-third of vagina) in a phenotypically and genotypically male ...
Sharada R Rane +3 more
doaj +1 more source
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome [PDF]
, 2005 We report five-year-old girl with female pseudohermaphroditism due to classical form of 21-hydroxylase deficiency associated with Tuner's syndrome (45,X/ 46,XX) and insulin resistance.
Keskin, Mehmet +2 more
core +2 more sources
A case of female pseudohermaphroditism caused by maternal androluteoma
, 2000 Female pseudohermaphroditism is a condition characterized by various degree of external genitalia virilization in a patient with female internal genitalia and karyotype (XX). External genitalia is masculinized congenitally when female fetus is exposed to
GALLO C +22 more
core
Etiologic Evaluation of Male Pseudohermaphroditism in Infancy and Childhood
, 1984 • We outlined a diagnostic scheme for use with prepubertal patients with male pseudohermaphroditism (MPH) that included karyotyping, a genitourethrogram, a human chorionic gonadotropin stimulation test with plasma hormone level determinations, and ...
Lee, Peter A +3 more
core +1 more source
Persistent Mullerian Duct Syndrome in a Post Orchideopexy Patient with Gyanaecomastia and Hypospadias: A Case Report [PDF]
Journal of Krishna Institute of Medical Sciences University, 2015 Persistent Mullerian Duct Syndrome (PMDS), a rare form of male pseudohermaphroditism. It is characterized by the persistence of Mullerian duct structures (uterus, fallopian tubes and upper two-thirds of vagina) in otherwise normally virilized males (
Vinay S. Kundargi +5 more
doaj
Controversies on clitoroplasty
Therapeutic Advances in Urology, 2011 A review of the literature regarding the current state of knowledge of the anatomic and physiologic features of the female clitoris was conducted. Based on this evaluation, operations on the clitoris were reviewed.
Atilla Şenaylı
doaj +1 more source
Urology Case Reports, 2017 Hernia uteri inguinalis (HUI) is one of the rarest causes of male pseudo-hermaphroditism worldwide. We report the case of a 49-year-old male with discovery of this anomaly during inguinal hernia repair.
Lauren Pulido +4 more
doaj +1 more source