نتایج جستجو برای: 46xy dsd

تعداد نتایج: 1104  

Journal: :The Journal of clinical endocrinology and metabolism 2010
Christopher P Houk Peter A Lee

The goal of sex assignment is to facilitate the best possible quality of life for the patient. Factors such as reproductive system development, sexual identity, sexual function, and fertility are important considerations in this regard. Although some DSD gender assignments are relatively straightforward, those with midstage genital ambiguity and unclear gonadal function represent a major challe...

Journal: :The Journal of Cell Biology 2000
Yan Ping Wu Chia-Jen Siao Weiquan Lu Tsung-Chang Sung Michael A. Frohman Peter Milev Thomas H. Bugge Jay L. Degen Joel M. Levine Richard U. Margolis Stella E. Tsirka

Short seizure episodes are associated with remodeling of neuronal connections. One region where such reorganization occurs is the hippocampus, and in particular, the mossy fiber pathway. Using genetic and pharmacological approaches, we show here a critical role in vivo for tissue plasminogen activator (tPA), an extracellular protease that converts plasminogen to plasmin, to induce mossy fiber s...

2017
V. Raveenthiran

Management of ambiguous genitalia is highly controversial. This condition was known previously as intersex and presently as disorders of sex development (DSD). There is no consensus regarding the choice, timing and method of sex assignment in neonates with DSD. Consensus conferences could not unify the views of various stakeholders and third parties. This article philosophically examines the na...

2013
Mengfei Cao Hao Zhang Jisoo Park Noah M. Daniels Mark E. Crovella Lenore J. Cowen Benjamin Hescott

In protein-protein interaction (PPI) networks, functional similarity is often inferred based on the function of directly interacting proteins, or more generally, some notion of interaction network proximity among proteins in a local neighborhood. Prior methods typically measure proximity as the shortest-path distance in the network, but this has only a limited ability to capture fine-grained ne...

Journal: :Human molecular genetics 2010
Juan Carlos Polanco Dagmar Wilhelm Tara-Lynne Davidson Deon Knight Peter Koopman

Male development in mammals is normally initiated by the Y-linked gene Sry, which activates expression of Sox9, leading to a cascade of gene activity required for testis formation. Although defects in this genetic cascade lead to human disorders of sex development (DSD), only a dozen DSD genes have been identified, and causes of 46,XX DSD (XX maleness) other than SRY translocation are almost co...

2006
Y. L. Kogan

The paper analyzes errors in retrievals of cloud liquid water content (Ql) and precipitation flux (R) based on three different sets of parameters: a) radar reflectivity, Z, b) radar reflectivity and Doppler velocity, V , and c) radar reflectivity and Doppler velocity spectrum width, σ d d. As radar reflectivity represents the sixth moment of the drop size distribution (DSD), one can expect it t...

2007
Guifu Zhang Ming Xue Qing Cao Daniel Dawson

Information about the drop size distribution (DSD) is essential for understanding precipitation physics, estimating rainfall, and improving microphysics parameterizations in numerical weather prediction (NWP) models (Steiner et al. 2004). The characteristics of rain DSDs are often associated with the types of storms (e.g., convective versus stratiform rain) and their stages of development (e.g....

Journal: :European journal of medical genetics 2013
Ameli Norling Angelica Lindén Hirschberg Erik Iwarsson Bengt Persson Anna Wedell Michela Barbaro

Half of all patients with a disorder of sex development (DSD) do not receive a specific molecular diagnosis. Comparative genomic hybridization (CGH) can detect copy number changes causing gene haploinsufficiency or over-expression that can lead to impaired gonadal development and gonadal DSD. The purpose of this study was to identify novel candidate genes for 46,XY gonadal dysgenesis (GD) using...

Journal: :Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2011
Kranti S Khadilkar Sweta R Budyal Rajeev Kasaliwal Pragati A Sathe Bhuvaneshwari Kandalkar Beejal V Sanghvi Sandesh V Parelkar Anurag R Lila Tushar Bandgar Nalini S Shah

OBJECTIVE Ovotesticular disorder of sex development (OT DSD) is a rare disorder of sex development characterized by the presence in the same individual of both histologically proven testis and ovary. There are scant data from the Indian subcontinent regarding this disorder. The aim of this study was to describe the clinical, biochemical, imaging, cytogenetic, surgical, and histopathologic findi...

2013
Nanis S Marzuki Lita P Suciati Chrysantine Paramayuda Hannie D Kartapradja Bambang Tridaja

46,XY Disorders of Sex Development (DSD) has wide variations of clinical manifestations ranging from complete female, genitalia ambiguity, to complete male. Therefore the inviduals with this disorder can be reared as boys or girls. Most of Indonesian DSD cases are facing with budget constraint, because they require series of costly examinations and treatment. We aimed to know the distribution o...

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