| Year |
Citation |
Score |
| 2023 |
Ben-Mahmoud A, Kishikawa S, Gupta V, Leach NT, Shen Y, Moldovan O, Goel H, Hopper B, Ranguin K, Gruchy N, Maas SM, Lacassie Y, Kim SH, Kim WY, Quade BJ, ... ... Layman LC, et al. A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome. Scientific Reports. 13: 12984. PMID 37563198 DOI: 10.1038/s41598-023-40037-4 |
0.336 |
|
| 2023 |
Ben-Mahmoud A, Kishikawa S, Gupta V, Leach NT, Shen Y, Moldovan O, Goel H, Hopper B, Ranguin K, Gruchy N, Maas SM, Lacassie Y, Kim SH, Kim WY, Quade BJ, ... ... Layman LC, et al. A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome. Research Square. PMID 37034680 DOI: 10.21203/rs.3.rs-2572736/v1 |
0.33 |
|
| 2021 |
Louden ED, Poch A, Kim HG, Ben-Mahmoud A, Kim SH, Layman LC. Genetics of Hypogonadotropic Hypogonadism-Human and Mouse Genes, Inheritance, Oligogenicity, and Genetic Counseling. Molecular and Cellular Endocrinology. 111334. PMID 34062169 DOI: 10.1016/j.mce.2021.111334 |
0.335 |
|
| 2020 |
Brakta S, Chorich LP, Kim HG, Coons LA, Katzenellenbogen JA, Hall JE, Kenneth SK, Layman LC. Long-Term Follow Up and Treatment of a Female with Complete Estrogen Insensitivity. The Journal of Clinical Endocrinology and Metabolism. PMID 32152632 DOI: 10.1210/Clinem/Dgaa106 |
0.366 |
|
| 2020 |
Labonne JDJ, Driessen TM, Harris ME, Kong IK, Brakta S, Theisen J, Sangare M, Layman LC, Kim CH, Lim J, Kim HG. Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31. Journal of Clinical Medicine. 9. PMID 31963867 DOI: 10.3390/Jcm9010274 |
0.351 |
|
| 2019 |
Theisen JG, Sundaram V, Filchak MS, Chorich LP, Sullivan ME, Knight J, Kim HG, Layman LC. The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants. Scientific Reports. 9: 20099. PMID 31882810 DOI: 10.1038/S41598-019-53500-Y |
0.358 |
|
| 2019 |
Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, ... ... Layman LC, et al. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. Molecular Autism. 10: 35. PMID 31649809 DOI: 10.1186/S13229-019-0286-0 |
0.429 |
|
| 2019 |
Louden E, Ko EK, Chorich L, Layman L. SAT-404 Effect of Nsmf Knockout upon Hypothalamic and Pituitary Gene Expression in the Nsmf KO Mouse Journal of the Endocrine Society. 3. DOI: 10.1210/Js.2019-Sat-404 |
0.347 |
|
| 2019 |
Brakta S, Chorich L, Kim H, Coons L, Hall J, Korach K, Layman L. OR15-4 Long-Term Follow-Up of a Female with a Mutation in the Estrogen Receptor Alpha (ESR1) Gene Journal of the Endocrine Society. 3. DOI: 10.1210/Js.2019-Or15-4 |
0.371 |
|
| 2018 |
Demir Eksi D, Shen Y, Erman M, Chorich LP, Sullivan ME, Bilekdemir M, Yılmaz E, Luleci G, Kim HG, Alper OM, Layman LC. Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia. Molecular Cytogenetics. 11: 13. PMID 29434669 DOI: 10.1186/S13039-018-0359-3 |
0.427 |
|
| 2017 |
Kim YJ, Osborn DP, Lee JY, Araki M, Araki K, Mohun T, Känsäkoski J, Brandstack N, Kim HT, Miralles F, Kim CH, Brown NA, Kim HG, Martinez-Barbera JP, Ataliotis P, ... ... Layman LC, et al. WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. Embo Reports. PMID 29263200 DOI: 10.15252/Embr.201744632 |
0.408 |
|
| 2017 |
Ko EK, Chorich LP, Sullivan ME, Cameron RS, Layman LC. JAK/STAT signaling pathway gene expression is reduced following Nelf knockdown in GnRH neurons. Molecular and Cellular Endocrinology. PMID 29050862 DOI: 10.1016/J.Mce.2017.10.009 |
0.357 |
|
| 2017 |
Williams LS, Demir Eksi D, Shen Y, Lossie AC, Chorich LP, Sullivan ME, Phillips JA, Erman M, Kim HG, Alper OM, Layman LC. Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families. Fertility and Sterility. PMID 28600106 DOI: 10.1016/J.Fertnstert.2017.05.017 |
0.417 |
|
| 2017 |
Trofimova T, Lizneva D, Suturina L, Walker W, Chen YH, Azziz R, Layman LC. Genetic basis of eugonadal and hypogonadal female reproductive disorders. Best Practice & Research. Clinical Obstetrics & Gynaecology. PMID 28576390 DOI: 10.1016/J.Bpobgyn.2017.05.003 |
0.371 |
|
| 2016 |
Ha K, Anand P, Lee JA, Jones JR, Kim CA, Bertola DR, Labonne JD, Layman LC, Wenzel W, Kim HG. Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort. Genes. 7. PMID 27834868 DOI: 10.3390/Genes7110096 |
0.42 |
|
| 2016 |
Labonne JD, Graves TD, Shen Y, Jones JR, Kong IK, Layman LC, Kim HG. A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies. Bmc Neurology. 16: 132. PMID 27506666 DOI: 10.1186/S12883-016-0642-Z |
0.35 |
|
| 2016 |
Quaynor SD, Bosley ME, Duckworth CG, Porter KR, Kim SH, Kim HG, Chorich LP, Sullivan ME, Choi JH, Cameron RS, Layman LC. Targeted next generation sequencing approach identifies nineteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann Syndrome. Molecular and Cellular Endocrinology. PMID 27502037 DOI: 10.1016/J.Mce.2016.08.007 |
0.451 |
|
| 2016 |
Williams LS, Kim HG, Kalscheuer VM, Tuck JM, Chorich LP, Sullivan ME, Falkenstrom A, Reindollar RH, Layman LC. A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3. Molecular Cytogenetics. 9: 57. PMID 27478502 DOI: 10.1186/S13039-016-0264-6 |
0.414 |
|
| 2016 |
Labonne JD, Lee KH, Iwase S, Kong IK, Diamond MP, Layman LC, Kim CH, Kim HG. An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability. Human Genetics. PMID 27106595 DOI: 10.1007/S00439-016-1668-4 |
0.399 |
|
| 2016 |
Labonne JD, Shen Y, Kong IK, Diamond MP, Layman LC, Kim HG. Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability. Molecular Cytogenetics. 9: 24. PMID 26997977 DOI: 10.1186/S13039-016-0234-Z |
0.347 |
|
| 2015 |
Labonne JD, Vogt J, Reali L, Kong IK, Layman LC, Kim HG. A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies. American Journal of Medical Genetics. Part A. PMID 26333423 DOI: 10.1002/Ajmg.A.37344 |
0.421 |
|
| 2015 |
Labonne JD, Chung MJ, Jones JR, Anand P, Wenzel W, Iacoboni D, Layman LC, Kim HG. Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome. Gene. PMID 26297997 DOI: 10.1016/J.Gene.2015.08.032 |
0.446 |
|
| 2015 |
Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wołczynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, ... Layman LC, et al. Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency. The Journal of Clinical Endocrinology and Metabolism. jc20152262. PMID 26207952 DOI: 10.1210/Jc.2015-2262 |
0.453 |
|
| 2015 |
Dobek WA, Kim HG, Walls CA, Chorich LP, Tho SP, Wang ZX, McDonough PG, Layman LC. Long-term follow-up of females with unbalanced X;Y translocations-reproductive and nonreproductive consequences. Molecular Cytogenetics. 8: 13. PMID 25737742 DOI: 10.1186/S13039-015-0112-0 |
0.318 |
|
| 2015 |
Quaynor SD, Ko EK, Chorich LP, Sullivan ME, Demir D, Waller JL, Kim HG, Cameron RS, Layman LC. NELF knockout is associated with impaired pubertal development and subfertility. Molecular and Cellular Endocrinology. 407: 26-36. PMID 25731822 DOI: 10.1016/J.Mce.2015.02.015 |
0.427 |
|
| 2015 |
Halder SK, Laknaur A, Miller J, Layman LC, Diamond M, Al-Hendy A. Novel MED12 gene somatic mutations in women from the Southern United States with symptomatic uterine fibroids. Molecular Genetics and Genomics : Mgg. 290: 505-11. PMID 25325994 DOI: 10.1007/S00438-014-0938-X |
0.39 |
|
| 2014 |
Layman LC. The genetics of Mullerian aplasia. Expert Review of Endocrinology & Metabolism. 9: 411-419. PMID 30763999 DOI: 10.1586/17446651.2014.914433 |
0.422 |
|
| 2014 |
Jun KR, Ullmann R, Khan S, Layman LC, Kim HG. Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up. Molecular Cytogenetics. 7: 52. PMID 25295072 DOI: 10.1186/1755-8166-7-52 |
0.316 |
|
| 2014 |
Nishimoto HK, Ha K, Jones JR, Dwivedi A, Cho HM, Layman LC, Kim HG. The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. American Journal of Medical Genetics. Part A. 164: 2172-9. PMID 25044551 DOI: 10.1002/Ajmg.A.36488 |
0.438 |
|
| 2014 |
Bhagavath B, Layman LC, Ullmann R, Shen Y, Ha K, Rehman K, Looney S, McDonough PG, Kim HG, Carr BR. Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene. Molecular and Cellular Endocrinology. 393: 1-7. PMID 24907458 DOI: 10.1016/J.Mce.2014.05.006 |
0.366 |
|
| 2014 |
Romeike BF, Shen Y, Nishimoto HK, Morton CC, Layman LC, Kim HG. Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion. Clinical Neuropathology. 33: 238-44. PMID 24780589 DOI: 10.5414/Np300691 |
0.375 |
|
| 2014 |
Quaynor SD, Goldberg LY, Ko EK, Stanley RK, Demir D, Kim HG, Chorich LP, Cameron RS, Layman LC. Differential expression of nasal embryonic LHRH factor (NELF) variants in immortalized GnRH neuronal cell lines. Molecular and Cellular Endocrinology. 383: 32-7. PMID 24316376 DOI: 10.1016/J.Mce.2013.11.020 |
0.303 |
|
| 2013 |
Quaynor SD, Stradtman EW, Kim HG, Shen Y, Chorich LP, Schreihofer DA, Layman LC. Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant. The New England Journal of Medicine. 369: 164-71. PMID 23841731 DOI: 10.1056/Nejmoa1303611 |
0.402 |
|
| 2013 |
Layman LC. Clinical genetic testing for Kallmann syndrome. The Journal of Clinical Endocrinology and Metabolism. 98: 1860-2. PMID 23650337 DOI: 10.1210/Jc.2013-1624 |
0.399 |
|
| 2013 |
Layman LC. The genetic basis of female reproductive disorders: etiology and clinical testing. Molecular and Cellular Endocrinology. 370: 138-48. PMID 23499866 DOI: 10.1016/J.Mce.2013.02.016 |
0.498 |
|
| 2013 |
Newbern K, Natrajan N, Kim HG, Chorich LP, Halvorson LM, Cameron RS, Layman LC. Identification of HESX1 mutations in Kallmann syndrome. Fertility and Sterility. 99: 1831-7. PMID 23465708 DOI: 10.1016/J.Fertnstert.2013.01.149 |
0.425 |
|
| 2013 |
Nguyen LS, Kim HG, Rosenfeld JA, Shen Y, Gusella JF, Lacassie Y, Layman LC, Shaffer LG, Gécz J. Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Human Molecular Genetics. 22: 1816-25. PMID 23376982 DOI: 10.1093/Hmg/Ddt035 |
0.44 |
|
| 2013 |
Siegel ET, Kim HG, Nishimoto HK, Layman LC. The molecular basis of impaired follicle-stimulating hormone action: evidence from human mutations and mouse models. Reproductive Sciences (Thousand Oaks, Calif.). 20: 211-33. PMID 23184658 DOI: 10.1177/1933719112461184 |
0.413 |
|
| 2012 |
Zhong Q, Layman LC. Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism. Fertility and Sterility. 98: 775-9. PMID 23020909 DOI: 10.1016/J.Fertnstert.2012.08.021 |
0.347 |
|
| 2012 |
Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, ... ... Layman LC, et al. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. American Journal of Human Genetics. 91: 56-72. PMID 22770980 DOI: 10.1016/J.Ajhg.2012.05.005 |
0.399 |
|
| 2011 |
Quaynor SD, Kim HG, Cappello EM, Williams T, Chorich LP, Bick DP, Sherins RJ, Layman LC. The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Fertility and Sterility. 96: 1424-1430.e6. PMID 22035731 DOI: 10.1016/J.Fertnstert.2011.09.046 |
0.416 |
|
| 2011 |
Jain S, Kim HG, Lacbawan F, Meliciani I, Wenzel W, Kurth I, Sharma J, Schoeneman M, Ten S, Layman LC, Jacobson-Dickman E. Unique phenotype in a patient with CHARGE syndrome. International Journal of Pediatric Endocrinology. 2011: 11. PMID 21995344 DOI: 10.1186/1687-9856-2011-11 |
0.377 |
|
| 2011 |
Kim HG, Layman LC. The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Molecular and Cellular Endocrinology. 346: 74-83. PMID 21856375 DOI: 10.1016/J.Mce.2011.07.013 |
0.443 |
|
| 2011 |
Xu N, Kim HG, Bhagavath B, Cho SG, Lee JH, Ha K, Meliciani I, Wenzel W, Podolsky RH, Chorich LP, Stackhouse KA, Grove AM, Odom LN, Ozata M, Bick DP, ... ... Layman LC, et al. Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Fertility and Sterility. 95: 1613-20.e1-7. PMID 21300340 DOI: 10.1016/J.Fertnstert.2011.01.010 |
0.442 |
|
| 2010 |
Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, ... ... Layman LC, et al. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American Journal of Human Genetics. 87: 465-79. PMID 20887964 DOI: 10.1016/J.Ajhg.2010.08.018 |
0.398 |
|
| 2010 |
Aminzadeh M, Kim HG, Layman LC, Cheetham TD. Rarer syndromes characterized by hypogonadotropic hypogonadism. Frontiers of Hormone Research. 39: 154-67. PMID 20389093 DOI: 10.1159/000312701 |
0.349 |
|
| 2010 |
Kim HG, Pedersen-White J, Bhagavath B, Layman LC. Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations. Frontiers of Hormone Research. 39: 94-110. PMID 20389088 DOI: 10.1159/000312696 |
0.452 |
|
| 2009 |
Layman LC, Tho SP, Clark AD, Kulharya A, McDonough PG. Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes. Fertility and Sterility. 91: 791-7. PMID 18555994 DOI: 10.1016/J.Fertnstert.2007.12.078 |
0.317 |
|
| 2008 |
Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, ... Layman LC, et al. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American Journal of Human Genetics. 83: 511-9. PMID 18834967 DOI: 10.1016/J.Ajhg.2008.09.005 |
0.448 |
|
| 2008 |
Pedersen-White JR, Chorich LP, Bick DP, Sherins RJ, Layman LC. The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Molecular Human Reproduction. 14: 367-70. PMID 18463157 DOI: 10.1093/Molehr/Gan027 |
0.51 |
|
| 2008 |
Kim HG, Bhagavath B, Layman LC. Clinical manifestations of impaired GnRH neuron development and function. Neuro-Signals. 16: 165-82. PMID 18253056 DOI: 10.1159/000111561 |
0.43 |
|
| 2008 |
Lofrano-Porto A, Casulari LA, Nascimento PP, Giacomini L, Naves LA, da Motta LD, Layman LC. Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone beta subunit mutation. Fertility and Sterility. 90: 1169-74. PMID 17961559 DOI: 10.1016/J.Fertnstert.2007.07.1356 |
0.356 |
|
| 2007 |
Tho SP, Jackson R, Kulharya AS, Reindollar RH, Layman LC, McDonough PG. Long-term follow-up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex. American Journal of Medical Genetics. Part A. 143: 2616-22. PMID 17935253 DOI: 10.1002/Ajmg.A.31992 |
0.305 |
|
| 2007 |
Bhagavath B, Layman LC. The genetics of hypogonadotropic hypogonadism. Seminars in Reproductive Medicine. 25: 272-86. PMID 17594608 DOI: 10.1055/S-2007-980221 |
0.448 |
|
| 2007 |
Bhagavath B, Xu N, Ozata M, Rosenfield RL, Bick DP, Sherins RJ, Layman LC. KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans. Molecular Human Reproduction. 13: 165-70. PMID 17213338 DOI: 10.1093/Molehr/Gal108 |
0.435 |
|
| 2007 |
Xu N, Qin Y, Reindollar RH, Tho SP, McDonough PG, Layman LC. A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism. The Journal of Clinical Endocrinology and Metabolism. 92: 1155-8. PMID 17200176 DOI: 10.1210/Jc.2006-1183 |
0.395 |
|
| 2006 |
Layman LC. Editorial: BMP15--the first true ovarian determinant gene on the X-chromosome? The Journal of Clinical Endocrinology and Metabolism. 91: 1673-6. PMID 16679512 DOI: 10.1210/Jc.2006-0548 |
0.326 |
|
| 2006 |
Bhagavath B, Podolsky RH, Ozata M, Bolu E, Bick DP, Kulharya A, Sherins RJ, Layman LC. Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism. Fertility and Sterility. 85: 706-13. PMID 16500342 DOI: 10.1016/J.Fertnstert.2005.08.044 |
0.456 |
|
| 2006 |
Awonuga AO, Layman KL, Chorich LP, Layman LC. P-517: OTX2 gene mutations in patients with Idiopathic Hypogonadotropic Hypogonadism Fertility and Sterility. 86. DOI: 10.1016/J.Fertnstert.2006.07.884 |
0.424 |
|
| 2005 |
Bhagavath B, Ozata M, Ozdemir IC, Bolu E, Bick DP, Sherins RJ, Layman LC. The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism. Fertility and Sterility. 84: 951-7. PMID 16213849 DOI: 10.1016/J.Fertnstert.2005.04.029 |
0.428 |
|
| 2005 |
Xu N, Podolsky RH, Chudgar P, Chorich LP, Liu C, McDonough PG, Warrington JA, Layman LC. Screening candidate genes for mutations in patients with hypogonadotropic hypogonadism using custom genome resequencing microarrays. American Journal of Obstetrics and Gynecology. 192: 1274-82; discussion . PMID 15846219 DOI: 10.1016/J.Ajog.2004.12.066 |
0.301 |
|
| 2004 |
Park JK, Ozata M, Chorich LP, Cheng L, Bick DP, Sherins RJ, Ozdemir IC, Bolu E, Cogan JD, Phillips JA, Layman LC. Analysis of the PROP1 gene in a large cohort of patients with idiopathic hypogonadotropic hypogonadism. Clinical Endocrinology. 60: 147-9. PMID 14678304 DOI: 10.1111/J.1365-2265.2004.01928.X |
0.365 |
|
| 2003 |
Layman LC. Genetic causes of human infertility. Endocrinology and Metabolism Clinics of North America. 32: 549-72. PMID 14575025 DOI: 10.1016/S0889-8529(03)00040-9 |
0.443 |
|
| 2003 |
Clark AD, Layman LC. Analysis of the Cys82Arg mutation in follicle-stimulating hormone beta (FSHbeta) using a novel FSH expression vector. Fertility and Sterility. 79: 379-85. PMID 12568849 DOI: 10.1016/S0015-0282(02)04660-5 |
0.431 |
|
| 2002 |
Layman LC, Cohen DP, Xie J, Smith GD. Clinical phenotype and infertility treatment in a male with hypogonadotropic hypogonadism due to mutations Ala129Asp/Arg262Gln of the gonadotropin-releasing hormone receptor. Fertility and Sterility. 78: 1317-20. PMID 12477532 DOI: 10.1016/S0015-0282(02)04341-8 |
0.305 |
|
| 2002 |
Layman LC, Porto AL, Xie J, da Motta LA, da Motta LD, Weiser W, Sluss PM. FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia. The Journal of Clinical Endocrinology and Metabolism. 87: 3702-7. PMID 12161499 DOI: 10.1210/Jcem.87.8.8724 |
0.475 |
|
| 2002 |
Layman LC. Human gene mutations causing infertility Journal of Medical Genetics. 39: 153-161. PMID 11897813 DOI: 10.1136/Jmg.39.3.153 |
0.47 |
|
| 2002 |
Barnes RB, Namnoum AB, Rosenfield RL, Layman LC. The role of LH and FSH in ovarian androgen secretion and ovarian follicular development: clinical studies in a patient with isolated FSH deficiency and multicystic ovaries. Human Reproduction (Oxford, England). 17: 88-91. PMID 11756367 DOI: 10.1093/Humrep/17.1.88 |
0.395 |
|
| 2001 |
Layman LC, McDonough PG, Cohen DP, Maddox M, Tho SPT, Reindollar RH. Familial gonadotropin-releasing hormone resistance and hypogonadotropic hypogonadism in a family with multiple affected individuals Fertility and Sterility. 75: 1148-1155. PMID 11384641 DOI: 10.1016/S0015-0282(01)01782-4 |
0.429 |
|
| 2000 |
Layman LC. Mutations in the follicle-stimulating hormone-beta (FSH beta) and FSH receptor genes in mice and humans. Seminars in Reproductive Medicine. 18: 5-10. PMID 11299519 DOI: 10.1055/S-2000-13470 |
0.419 |
|
| 2000 |
Barnes RB, Rosenfield RL, Namnoum A, Layman LC. Effect of follicle-stimulating hormone on ovarian androgen production in a woman with isolated follicle-stimulating hormone deficiency. The New England Journal of Medicine. 343: 1197-8. PMID 11041762 DOI: 10.1056/Nejm200010193431614 |
0.334 |
|
| 2000 |
Layman LC, McDonough PG. Mutations of follicle stimulating hormone-β and its receptor in human and mouse: genotype/phenotype Molecular and Cellular Endocrinology. 161: 9-17. PMID 10773385 DOI: 10.1016/S0303-7207(99)00217-8 |
0.408 |
|
| 2000 |
Layman LC. The molecular basis of human hypogonadotropic hypogonadism. Molecular Genetics and Metabolism. 68: 191-9. PMID 10527669 DOI: 10.1006/MGME.1999.2912 |
0.41 |
|
| 1999 |
Layman LC. Genetics of human hypogonadotropic hypogonadism. American Journal of Medical Genetics. 89: 240-248. PMID 10727999 DOI: 10.1002/(Sici)1096-8628(19991229)89:4<240::Aid-Ajmg8>3.0.Co;2-7 |
0.496 |
|
| 1999 |
Achermann JC, Gu WX, Kotlar TJ, Meeks JJ, Sabacan LP, Seminara SB, Habiby RL, Hindmarsh PC, Bick DP, Sherins RJ, Crowley WF, Layman LC, Jameson JL. Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. The Journal of Clinical Endocrinology and Metabolism. 84: 4497-500. PMID 10599708 DOI: 10.1210/jcem.84.12.6269 |
0.359 |
|
| 1999 |
Taylor HS, Block K, Bick DP, Sherins RJ, Layman LC, Shering RJ. Mutation analysis of the EMX2 gene in Kallmann's syndrome. Fertility and Sterility. 72: 910-4. PMID 10560999 DOI: 10.1016/S0015-0282(99)00376-3 |
0.352 |
|
| 1999 |
Cohen DP, Stein EM, Li Z, Matulis CK, Ehrmann DA, Layman LC. Molecular analysis of the gonadotropin-releasing hormone receptor in patients with polycystic ovary syndrome. Fertility and Sterility. 72: 360-3. PMID 10439012 DOI: 10.1016/S0015-0282(99)00225-3 |
0.336 |
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| 1999 |
Layman LC. Mutations in human gonadotropin genes and their physiologic significance in puberty and reproduction. Fertility and Sterility. 71: 201-18. PMID 9988386 DOI: 10.1016/S0015-0282(98)00431-2 |
0.343 |
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| 1998 |
Layman LC, Cohen DP, Jin M, Xie J, Li Z, Reindollar RH, Bolbolan S, Bick DP, Sherins RR, Duck LW, Musgrove LC, Sellers JC, Neill JD. Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. Nature Genetics. 18: 14-5. PMID 9425890 DOI: 10.1038/ng0198-14 |
0.319 |
|
| 1998 |
Layman LC, Lee E, Peak DB, Namnoum AB, Vu KV, Lingen BLv, Gray MR, McDonough PG, Reindollar RH, Jameson LJ. Delayed Puberty And Hypogonadism Caused By Mutations In The Follicle-Stimulating Hormone Beta -Subunit Gene Obstetrical & Gynecological Survey. 53: 85-87. DOI: 10.1097/00006254-199802000-00016 |
0.398 |
|
| 1997 |
Layman LC, Peak DB, Xie J, Sohn SH, Reindollar RH, Gray MR. Mutation analysis of the gonadotropin-releasing hormone receptor gene in idiopathic hypogonadotropic hypogonadism. Fertility and Sterility. 68: 1079-85. PMID 9418701 DOI: 10.1016/S0015-0282(97)00400-7 |
0.33 |
|
| 1997 |
Layman LC, Edwards JL, Osborne WE, Peak DB, Gallup DG, Tho SPT, Reindollar RH, Roach DJ, McDonough PG, Lanclos KD. Human chorionic gonadotrophin-β gene sequences in women with disorders of HCG production Molecular Human Reproduction. 3: 315-320. PMID 9237259 DOI: 10.1093/MOLEHR/3.4.315 |
0.307 |
|
| 1996 |
Gross V, Dubey A, Penzias AS, Layman L, Reindollar R, Ducibella T. Biochemical study of individual zonae from human oocytes that failed to undergo fertilization in intracytoplasmic sperm injection. Molecular Human Reproduction. 2: 959-65. PMID 9237240 DOI: 10.1093/Molehr/2.12.959 |
0.306 |
|
| 1993 |
Layman LC, Shelley ME, Huey LO, Wall SW, Tho SPT, McDonough PG. Follicle-stimulating hormone beta gene structure in premature ovarian failure Fertility and Sterility. 60: 852-857. PMID 8224270 DOI: 10.1016/S0015-0282(16)56286-4 |
0.364 |
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| 1993 |
Layman LC, Lanclos KD, Tho SPT, Sweet CR, McDonough PG. Patients with idiopathic hypogonadotropic hypogonadism have normal gonadotropin-releasing hormone gene structure Adolescent and Pediatric Gynecology. 6: 214-219. DOI: 10.1016/S0932-8610(12)80046-6 |
0.387 |
|
| 1992 |
Tho SPT, Layman LC, Lanclos KD, Plouffe L, Byrd JR, McDonough PG. Absence of the testicular determining factor gene SRY in XX true hermaphrodites and presence of this locus in most subjects with gonadal dysgenesis caused by Y aneuploidy. American Journal of Obstetrics and Gynecology. 167: 1794-1802. PMID 1471700 DOI: 10.1016/0002-9378(92)91777-8 |
0.343 |
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| 1991 |
Layman LC. Idiopathic hypogonadotropic hypogonadism: Diagnosis, pathogenesis, genetics, and treatment Adolescent and Pediatric Gynecology. 4: 111-118. DOI: 10.1016/S0932-8610(19)80016-6 |
0.413 |
|
| 1988 |
Layman LC, Plouffe L, McDonough PG. Case report: McCune—Albright syndrome: Evidence for periodic estrogen secretion Adolescent and Pediatric Gynecology. 1: 131-136. DOI: 10.1016/S0932-8610(88)80037-9 |
0.333 |
|
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