Results 61 to 70 of about 7,068 (209)
Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou +3 more
wiley +1 more source
ABSTRACT Background and Aims The present review aims to ascertain whether reproductive disorders are associated with specific physical, mental, personality, and social traits. This information may be used to support or reject the hypothesis on the origin of infecundity, which proposes that women/men with preferred characteristics, including high ...
Juan J. Tarín +2 more
wiley +1 more source
Cohen syndrome with acanthosis nigricans and insulin resistance
Cohen syndrome is a rare genetic disorder consisting of truncal obesity, hypotonia, mental retardation, microcephalia, characteristic facial appearance and ocular anomalies.
B. Elmas +9 more
core +1 more source
Extensive segmental acanthosis nigricans form of epidermal nevus. [PDF]
Contains fulltext : 88617.pdf (Publisher’s version ) (Open Access)Eight cases of the acanthosis nigricans form of epidermal nevus have been described in literature.
Rossum, M.M. van +5 more
core +1 more source
Acanthosis nigricans: A cutaneous marker for metabolic syndrome
Background: Acanthosis Nigricans (AN) is an easily identifiable dermatoses characterized by thickened, hyperpigmented plaques. Metabolic syndrome refers to a clustering of metabolic risk factors including central obesity, glucose intolerance ...
Nirali Girish Shah +4 more
doaj +1 more source
Capsule summary We report a patient with paraneoplastic florid oral papillomatosis and malignant acanthosis nigricans associated with HPV‐related squamous cell carcinoma of unknown primary. While cutaneous verrucae tested positive for HPV, all oropharyngeal lesions were HPV‐negative, supporting their paraneoplastic nature.
Jose Ángel Amat‐Sanchez +6 more
wiley +1 more source
Acanthosis nigricans: a clinical marker of insulin resistance
<p><strong>Background:</strong> Very little information is available regarding the association of acanthosis nigricans with insulin resistance from rural areas of India.
Vikrant Saoji +3 more
core +1 more source
Crouzon with Acanthosis Nigricans and Odontogenic Tumors
Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis ...
Donna M. McDonald-McGinn +5 more
core +1 more source
Background: Polycystic ovarian disease (PCOD) is characterized by oligo/anovulation, ultrasonographic evidence of polycystic ovaries and cutaneous features such as hirsutism, acne, acanthosis nigricans, androgentic alopecia, and signs of virilization ...
Yugal K Sharma +3 more
doaj +1 more source

