Results 81 to 90 of about 990,174 (349)

Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development

BMC Medical Genomics, 2022
Background Disorders of sex development (DSD) are congenital disorders in which the development of the chromosomal, gonadal, or anatomical sex is atypical.
Jia Wei, Jiaqi Wu, Wei Ru, Guangjie Chen, Lei Gao, Daxing Tang   +5 more
doaj   +1 more source

Mutations in NR5A1 Associated with Ovarian Insufficiency [PDF]

, 2009
BackgroundThe genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis.
Achermann, John C., Bashamboo, Anu, Boudjenah, Radia, Brauner, Raja, De Perdigo, Arantzazu, Guerra-Junior, Gil, Lin, Lin, Lourenco, Diana, Maciel-Guerra, Andrea T., McElreavey, Ken, Muresan, Mihaela, Weryha, Georges   +11 more
core   +1 more source

Current trends in single‐cell RNA sequencing applications in diabetes mellitus

FEBS Open Bio, EarlyView.
Single‐cell RNA sequencing is a powerful approach to decipher the cellular and molecular landscape at a single‐cell resolution. The rapid development of this technology has led to a wide range of applications, including the detection of cellular and molecular mechanisms and the identification and introduction of novel potential diagnostic and ...
Seyed Sajjad Zadian, Khodakaram Jahanbin, Shekoofeh Nikooei, Marzieh Rostaminejad, Arezoo Rahimi, Pedram Abdizadeh, Behnam Alipoor   +6 more
wiley   +1 more source

46,XY ovotesticular disorders of sex development: A therapeutic challenge

Pediatric Reports, 2017
46,XY ovotesticular disorder of sex development is extremely rare and indicates the presence of both testis and ovary in the same patient. Gender assignment in newborns represents a therapeutic challenge.
Maria-Grazia Scarpa, Massimo Di Grazia, Gianluca Tornese   +2 more
doaj   +1 more source

Sexuality in Adults with Differences/Disorders of Sex Development (DSD): Findings from the dsd-LIFE Study

Journal of Sex & Marital Therapy, 2019
For various reasons, sexuality of individuals with differences/disorders of sex development (DSD) may be affected. The aim of the study was to describe sexual activity, satisfaction with sex life, satisfaction with genital function, and sexual problems ...
B. Kreukels, P. Cohen-Kettenis, R. Roehle, T. C. van de Grift, J. Słowikowska-Hilczer, H. Claahsen-van der Grinten, A. Lindén Hirschberg, A. D. de Vries, N. Reisch, C. Bouvattier, A. Nordenström, U. Thyen, B. Köhler, On Behalf Of The Dsd-Life Group   +13 more
semanticscholar   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Written surgical informed consent elements in pediatric differences of sex development: pediatric urologist and endocrinologist perspectives

Frontiers in Urology, 2023
IntroductionElective aspects of surgical management of pediatric differences of sex development (DSD) are associated with controversy. We examined North American pediatric urologist and endocrinologist perspectives regarding recommended and existing ...
Zoe K. Lapham, Melissa Gardner, Sydney Sheinker, Sydney Sheinker, Kristina I. Suorsa-Johnson, Barry A. Kogan, Peter A. Lee, David E. Sandberg, David E. Sandberg   +8 more
doaj   +1 more source

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]

, 2011
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini, AJ Paige, AK Bednarek, Andrew Sinclair, D Wilhelm, DM Maatouk, E Sutton, Erin Turbitt, H Stoop, Jacqueline Hewitt, JH Ludes-Meyers, Leendert Looijenga, LH Looijenga, M Cools, M Cools, Martine Cools, MI Nunez, N Bouteille, PA Lee, Peter Koopman, R Hersmus, Remko Hersmus, RI Aqeilan, RI Aqeilan, RI Aqeilan, RI Aqeilan, S Del Mare, SJ White, SJ White, Stefan White, Stenvert Drop, Vincent Harley, Yvonne van der Zwan   +32 more
core   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development [PDF]

Clinics
OBJECTIVES: Single nucleotide variants (SNVs) are the most common type of genetic variation among humans. High-throughput sequencing methods have recently characterized millions of SNVs in several thousand individuals from various populations, most of ...
Luciana R. Montenegro, Antônio M. Lerário, Miriam Y. Nishi, Alexander A.L. Jorge, Berenice B. Mendonca   +4 more
doaj   +2 more sources