Richard J Sherins
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Explore the profile of Richard J Sherins including associated specialties, affiliations and a list of published articles.
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11
Citations
425
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Recent Articles
1.
Gharwan H, Neary N, Link M, Hsieh M, Fitzhugh C, Sherins R, et al.
Endocr Pract
. 2014 Jun;
20(9):e157-61.
PMID: 24936546
Objective: Myeloablative conditioning regimens given prior to hematopoietic stem cell transplantation (HSCT) frequently cause permanent sterility in men. In patients with sickle cell disease (SCD) we use a nonmyeloablative regimen...
2.
Bera T, Walker D, Sherins R, Pastan I
Biochem Biophys Res Commun
. 2012 Jan;
417(4):1271-4.
PMID: 22234308
The POTE gene family encodes very closely related proteins that are highly expressed in testis and in many cancers. Recent studies indicate that the POTE proteins have a pro-apoptotic function....
3.
Quaynor S, Kim H, Cappello E, Williams T, Chorich L, Bick D, et al.
Fertil Steril
. 2011 Nov;
96(6):1424-1430.e6.
PMID: 22035731
Objective: To determine the prevalence of digenic mutations in patients with idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS). Design: Molecular analysis of DNA in IHH/KS patients. Setting: Academic medical...
4.
Xu N, Kim H, Bhagavath B, Cho S, Lee J, Ha K, et al.
Fertil Steril
. 2011 Feb;
95(5):1613-20.e1-7.
PMID: 21300340
Objective: To determine if mutations in NELF, a gene isolated from migratory GnRH neurons, cause normosmic idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS). Design: Molecular analysis correlated with phenotype....
5.
Kim H, Ahn J, Kurth I, Ullmann R, Kim H, Kulharya A, et al.
Am J Hum Genet
. 2010 Oct;
87(4):465-79.
PMID: 20887964
By defining the chromosomal breakpoint of a balanced t(10;12) translocation from a subject with Kallmann syndrome and scanning genes in its vicinity in unrelated hypogonadal subjects, we have identified WDR11...
6.
Kim H, Kurth I, Lan F, Meliciani I, Wenzel W, Eom S, et al.
Am J Hum Genet
. 2008 Oct;
83(4):511-9.
PMID: 18834967
CHARGE syndrome and Kallmann syndrome (KS) are two distinct developmental disorders sharing overlapping features of impaired olfaction and hypogonadism. KS is a genetically heterogeneous disorder consisting of idiopathic hypogonadotropic hypogonadism...
7.
Pedersen-White J, Chorich L, Bick D, Sherins R, Layman L
Mol Hum Reprod
. 2008 May;
14(6):367-70.
PMID: 18463157
Idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS) are clinically and genetically heterogeneous disorders caused by a deficiency of gonadotrophin-releasing hormone (GnRH). Mutations in three genes--KAL1, GNRHR and FGFR1--account for...
8.
Bhagavath B, Xu N, Ozata M, Rosenfield R, Bick D, Sherins R, et al.
Mol Hum Reprod
. 2007 Jan;
13(3):165-70.
PMID: 17213338
Hypogonadotrophic hypogonadism results in the absence of puberty and if left untreated leads to infertility. Mutations in KAL1 are known to account for some of the cases of Kallmann syndrome....
9.
Bhagavath B, Podolsky R, Ozata M, Bolu E, Bick D, Kulharya A, et al.
Fertil Steril
. 2006 Feb;
85(3):706-13.
PMID: 16500342
Objective: To characterize the phenotype, modes of inheritance, karyotype, and molecular basis of patients with idiopathic hypogonadotropic hypogonadism (IHH). Design: Review of medical records, karyotyping, and collation of gene mutation...
10.
Bhagavath B, Ozata M, Ozdemir I, Bolu E, Bick D, Sherins R, et al.
Fertil Steril
. 2005 Oct;
84(4):951-7.
PMID: 16213849
Objective: To determine the prevalence of GNRH receptor (GNRHR) gene mutations in a large cohort of patients with idiopathic hypogonadotropic hypogonadism (IHH). Design: Molecular analysis and genotype/phenotype correlations. Setting: University...