Results 31 to 40 of about 990,174 (349)

ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries [PDF]

, 2020
This review summarizes the last decade of work by the ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global alliance of over 1400 scientists across 43 countries, studying the human brain in health and disease.
Adhikari, B. M., Agartz, I., Aghajani, M., Aleman, A., Althoff, R., Altmann, A., Andreassen, O. A., Baron, D. A., Bartnik-Olson, B. L., Baskin-Sommers, A. R., Baune, B. T., Bearden, C. E., Berner, L. A., Bertolín, S., Boedhoe, P. S. W., Bralten, J., Bright, J., Brouwer, R. M., Bruin, W. B., Buitelaar, J. K., Bülow, R., Caeyenberghs, K., Cecil, C. A. M., Chen, J., Ching, C. R., Chye, Y., Cohen, R. A., Cole, J. H., Conrod, P. J., Dannlowski, U., De Brito, S. A., de Kovel, C. G. F., de Zwarte, S. M. C., Dennis, E. L., Desrivieres, S., Dima, D., Donohoe, G., Ehrlich, S., ENIGMA Consortium,, Esopenko, C., Eyler, L. T., Fairchild, G., Faraone, S., Favre, P., Filippi, C. A., Fisher, S. E., Fouche, J-P., Francks, C., Frangou, S., Franke, B., Frodl, T., Garavan, H. P., Garijo, D., Gil, Y., Glahn, D. C., Grabe, H. J., Grasby, K. L., Groenewold, N. A., Gurholt, T. P., Gutman, B. A., Hahn, T., Hajek, T., Han, L. K., Harding, I. H., Hatton, S. N., Hernaus, D., Hibar, D. P., Hilbert, K., Hillary, F. G., Ho, T. C., Holleran, L., Homuth, G., Hoogman, M., Hosten, N., Houenou, J., Hulshoff Pol, H. E., Ivanov, I., Jahanshad, N., Jalbrzikowski, M., Jia, T., Karkashadze, G. A., Kelly, S., Klapwijk, E. T., Klein, M., Knickmeyer, R. C., Kochunov, P., Koerte, I. K., Kong, X-Z., Kwon, J. S., Laansma, M. A., Leerssen, J., Liew, S-L., Lin, A. P., Logue, M. W., Luders, E., Lueken, U., Macciardi, F., Mackey, S., Marie Bas-Hoogendam, J., Mayer, A. R., McDonald, C. R., McMahon, A. B., Medland, S. E., Modinos, G., Morey, R. A., Mueller, S. C., Mukherjee, P., Namazova-Baranova, L., Neill, J. O'., Nir, T. M., Nunes, A., Olsen, A., Opel, N., Paschou, P., Pine, D. S., Piras, F., Piras, F., Pizzagalli, F., Postema, M. C., Pozzi, E., Renteria, M. E., Rohrer, J. D., Salminen, L. E., Schmaal, L., Schumann, G., Shatokhina, N., Shiroishi, M. S., Sisodiya, S. M., Smit, D. J. A., Soriano-Mas, C., Spalletta, G., Stein, D. J., Stein, J. L., Sun, D., Sämann, P. G., Sønderby, I. E., Tahmasian, M., Tate, D. F., Teumer, A., Thomopoulos, S., Thompson, P. M., Tilot, A. K., Tozzi, L., Turner, J. A., van den Heuvel, O. A., van der Merwe, C., van der Wee, N. J. A., van der Werf, Y. D., van Erp, T. G. M., van Haren, N.E., van Rooij, D., Van Someren, E. J. W., van Velzen, L. S., van Wingen, G. A., Veer, I. M., Veltman, D. J., Villalon-Reina, J. E., Völzke, H., Walter, H., Walton, E., Wang, L., Whelan, C. D., Wilde, E. A., Winkler, A. M., Wittfeld, K., Wright, M. J., Yun, J-Y., Zarei, M., Zelman, V., Zhang, G., Zhang-James, Y.   +170 more
core   +16 more sources

Consanguinity and Disorders of Sex Development [PDF]

Human Heredity, 2014
Disorders of sex development (DSD) are defined as 'congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical' [Lee et al., Pediatrics 2006;118:e488-e500]. Studies conducted in Western countries, with low rates of consanguinity, show that truly ambiguous genitalia have an estimated incidence of 1:5,000 births.
Anu Bashamboo, Ken McElreavey
openaire   +3 more sources

The Evaluation of Parental Acceptance Towards Children with Sex Chromosomal Disorders of Sex Development Using A Mixed-Method

Journal of Biomedicine and Translational Research, 2021
Background: Sex chromosomal Disorder of sex development (DSD) is an atypical abnormality of external genitalia which is mismatched with its sex chromosome traits. The condition of children with DSD affects the dynamics in the family.
Iit Fitrianingrum, Annastasia Ediati, Tri Indah Winarni, Sultana MH Faradz   +3 more
doaj   +1 more source

Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2023
Purpose Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgens because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients
Nae-yun Lee, Ja Hye Kim, Ji-Hee Yoon, Soojin Hwang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi   +6 more
doaj   +1 more source

What Does AMH Tell Us in Pediatric Disorders of Sex Development?

Frontiers in Endocrinology, 2020
Disorders of sex development (DSD) are conditions where genetic, gonadal, and/or internal/external genital sexes are discordant. In many cases, serum testosterone determination is insufficient for the differential diagnosis. Anti-Müllerian hormone (AMH),
N. Josso, R. Rey
semanticscholar   +1 more source

The "backdoor pathway" of androgen synthesis in human male sexual development. [PDF]

, 2019
Mammalian sex determination (male versus female) is largely controlled by genes, whereas sex differentiation (development of reproductive structures) is largely controlled by hormones. Work in the 20th century indicated that female external anatomy was a
Auchus, Richard J, Miller, Walter L
core   +2 more sources

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2020
Purpose Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes.
Yena Lee, Jin-Ho Choi, Arum Oh, Gu-Hwan Kim, Sook-Hyun Park, Jung Eun Moon, Cheol Woo Ko, Chong-Kun Cheon, Han-Wook Yoo   +8 more
doaj   +1 more source

Disorders of Sex Development—Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation

International Journal of Molecular Sciences, 2020
Disorders (or differences) of sex development (DSD) are a heterogeneous group of congenital conditions with variations in chromosomal, gonadal, or anatomical sex.
N. Gomes, Tarini Chetty, A. Jørgensen, R. Mitchell   +3 more
semanticscholar   +1 more source

Disorders of sex development [PDF]

Best Practice & Research Clinical Obstetrics & Gynaecology, 2018
Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors. These factors regulate the commitment of the unipotential gonad into the binary pathways governing normal sex development. Typically, the presence of the SRY gene on the Y chromosome triggers the cascade of
openaire   +3 more sources

A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male

Clinical Case Reports, 2020
Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus.
Setilla Dalili, Bahareh Rabbani, Afagh Hassanzadeh Rad, Shaahin Koohmanaee, Nejat Mahdieh   +4 more
doaj   +1 more source