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10.1016/j.fertnstert.2017.05.017 http://scihub22266oqcxt.onion/10.1016/j.fertnstert.2017.05.017 C5770980!5770980!28600106     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Fertil+Steril 2017 ; 108 (1): 145-151.e2 Nephropedia Template TP {{tp|p=28600106|t=2017. Genetic Analysis of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Through Ascertainment of a Large Cohort of Families |pdf=|usr=}}{{28600106}} gab.com Text Genetic Analysis of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Through Ascertainment of a Large Cohort of Families JO: Fertil Steril http://www.kidney.de/pget.php?&tw=1&pmid=28600106 #FOAvip Objective: To study the genetic cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Although a few candidate genes and genomic domains for have been reported for MRKH, the genetic underpinnings remain largely unknown. Some of the top candidate genes are WNT4, HNF1B, and LHX1. The goals of this study were to: 1) determine the prevalence of WNT4, HNF1B, and LHX1 point mutations, as well as new copy number variants (CNVs) in people with MRKH; and 2) identify and characterize MRKH cohorts. Design: Laboratory and community based study Setting: Academic medical centers Patients: 147 MRKH probands and available family members Interventions: DNA sequencing of WNT4, HNF1B, and LHX1 in 100 MRKH patients; chromosomal microarray analysis in 31 North American MRKH patients; and ascertainment and sample collection of 147 North American and Turkish MRKH probands and their families Main Outcome Measure(s): DNA sequence variants and CNVs; pedigree structural analysis Results: We report finding CNVs in 6/31 (~19%) people with MRKH, but no point mutations or small indels in WNT4, HNF1B, or LHX1 in 100 MRKH patients. Our MRKH families included 43 quads, 26 trios, and 30 duos. Of our MRKH probands, 87/147 (59%) had MRKH type 1 and 60/147 (41%) had type 2 with additional anomalies. Conclusions: Although the prevalence of WNT4, HNF1B, and LHX1 point mutations is low in people with MRKH, the prevalence of CNVs was about 19%. Further analysis of our large familial cohort of patients will facilitate gene discovery to better understand the complex etiology of MRKH. Twit Text FOAVip Genetic Analysis of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Through Ascertainment of a Large Cohort of Families ????Fertil Steril http://www.kidney.de/pget.php?&tw=1&pmid=28600106 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28600106 #FOAvip English Wikipedia <ref>{{Cite pmid|28600106}}</ref> Genetic Analysis of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Through Ascertainment of a Large Cohort of Families #MMPMID28600106 Williams LS; Eksi DD; Shen Y; Lossie AC; Chorich LP; Sullivan ME; Phillips JA; Erman M; Kim HG; Alper OM; Layman LC Fertil Steril 2017[Jul]; 108 (1): 145-151.e2 PMID28600106show ga Objective: To study the genetic cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Although a few candidate genes and genomic domains for have been reported for MRKH, the genetic underpinnings remain largely unknown. Some of the top candidate genes are WNT4, HNF1B, and LHX1. The goals of this study were to: 1) determine the prevalence of WNT4, HNF1B, and LHX1 point mutations, as well as new copy number variants (CNVs) in people with MRKH; and 2) identify and characterize MRKH cohorts. Design: Laboratory and community based study Setting: Academic medical centers Patients: 147 MRKH probands and available family members Interventions: DNA sequencing of WNT4, HNF1B, and LHX1 in 100 MRKH patients; chromosomal microarray analysis in 31 North American MRKH patients; and ascertainment and sample collection of 147 North American and Turkish MRKH probands and their families Main Outcome Measure(s): DNA sequence variants and CNVs; pedigree structural analysis Results: We report finding CNVs in 6/31 (~19%) people with MRKH, but no point mutations or small indels in WNT4, HNF1B, or LHX1 in 100 MRKH patients. Our MRKH families included 43 quads, 26 trios, and 30 duos. Of our MRKH probands, 87/147 (59%) had MRKH type 1 and 60/147 (41%) had type 2 with additional anomalies. Conclusions: Although the prevalence of WNT4, HNF1B, and LHX1 point mutations is low in people with MRKH, the prevalence of CNVs was about 19%. Further analysis of our large familial cohort of patients will facilitate gene discovery to better understand the complex etiology of MRKH. äGenetic Analysis of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Thr(epmc).pdf DeepDyve Pubget Overpricing