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Research Output 1985 2019

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Article
2019

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

Kim, H. G., Rosenfeld, J. A., Scott, D. A., Bénédicte, G., Labonne, J. D., Brown, J., McGuire, M., Mahida, S., Naidu, S., Gutierrez, J., Lesca, G., Des Portes, V., Bruel, A. L., Sorlin, A., Xia, F., Capri, Y., Muller, E., McKnight, D., Torti, E., Rüschendorf, F. & 8 others, Hummel, O., Islam, Z., Kolatkar, P. R., Layman, L. C., Ryu, D., Kong, I. K., Madan-Khetarpal, S. & Kim, C. H., Oct 22 2019, In : Molecular Autism. 10, 1, 35.

Research output: Contribution to journalArticle

Open Access
Muscle Hypotonia
Autistic Disorder
Intellectual Disability
Epilepsy
Haploinsufficiency

The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants

Theisen, J. G., Sundaram, V., Filchak, M. S., Chorich, L. P., Sullivan, M. E., Knight, J., Kim, H. G. & Layman, L. C., Dec 1 2019, In : Scientific Reports. 9, 1, 20099.

Research output: Contribution to journalArticle

Open Access
Transgender Persons
Exome
Genes
Brain
Social Distance
2018
2 Citations (Scopus)

Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia

Demir Eksi, D., Shen, Y., Erman, M., Chorich, L. P., Sullivan, M. E., Bilekdemir, M., Yllmaz, E., Luleci, G., Kim, H. G., Alper, O. M. & Layman, L. C., Feb 3 2018, In : Molecular Cytogenetics. 11, 1, 13.

Research output: Contribution to journalArticle

Genes
Microarrays
Chromosomes
Animals
Western World
2 Citations (Scopus)

JAK/STAT signaling pathway gene expression is reduced following Nelf knockdown in GnRH neurons

Ko, E. K., Chorich, L. P., Sullivan, M. E., Cameron, R. S. & Layman, L. C., Jul 15 2018, In : Molecular and Cellular Endocrinology. 470, p. 151-159 9 p.

Research output: Contribution to journalArticle

Janus Kinases
Transcription
Transducers
Gene expression
Gonadotropin-Releasing Hormone
4 Citations (Scopus)

WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome

Kim, Y. J., Osborn, D. P. S., Lee, J. Y., Araki, M., Araki, K., Mohun, T., Känsäkoski, J., Brandstack, N., Kim, H. T., Miralles, F., Kim, C. H., Brown, N. A., Kim, H. G., Martinez-Barbera, J. P., Ataliotis, P., Raivio, T., Layman, L. C. & Kim, S. H., Feb 1 2018, In : EMBO Reports. 19, 2, p. 269-289 21 p.

Research output: Contribution to journalArticle

Kallmann Syndrome
Hedgehogs
Hypogonadism
Defects
Gene expression
2017
8 Citations (Scopus)

Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families

Williams, L. S., Demir Eksi, D., Shen, Y., Lossie, A. C., Chorich, L. P., Sullivan, M. E., Phillips, J. A., Erman, M., Kim, H. G., Alper, O. M. & Layman, L. C., Jul 2017, In : Fertility and sterility. 108, 1, p. 145-151.e2

Research output: Contribution to journalArticle

Point Mutation
Mullerian aplasia
Genetic Association Studies
Pedigree
Microarray Analysis
2016
4 Citations (Scopus)

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

Williams, L. S., Kim, H. G., Kalscheuer, V. M., Tuck, J. M., Chorich, L. P., Sullivan, M. E., Falkenstrom, A., Reindollar, R. H. & Layman, L. C., Jul 30 2016, In : Molecular Cytogenetics. 9, 1, 57.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 16
Genetic Translocation
Chromosomes, Human, Pair 3
Chromosomes
Genes
9 Citations (Scopus)

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

Labonne, J. D. J., Graves, T. D., Shen, Y., Jones, J. R., Kong, I. K., Layman, L. C. & Kim, H. G., Aug 9 2016, In : BMC Neurology. 16, 1, 132.

Research output: Contribution to journalArticle

Glycine Receptors
Intellectual Disability
Genes
Pelizaeus-Merzbacher Disease
X-Linked Genes
15 Citations (Scopus)

An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability

Labonne, J. D. J., Lee, K. H., Iwase, S., Kong, I. K., Diamond, M. P., Layman, L. C., Kim, C. H. & Kim, H. G., Jul 1 2016, In : Human Genetics. 135, 7, p. 757-771 15 p.

Research output: Contribution to journalArticle

Histone Demethylases
Intellectual Disability
Genes
Untranslated RNA
Zebrafish
2 Citations (Scopus)

Berberine Inhibits Uterine Leiomyoma Cell Proliferation via Downregulation of Cyclooxygenase 2 and Pituitary Tumor-Transforming Gene 1

Chuang, T. Y., Min, J., Wu, H. L., McCrary, C., Layman, L. C., Diamond, M. P., Azziz, R., Al-Hendy, A. & Chen, Y. H., Oct 30 2016, In : Reproductive Sciences. 24, 7, p. 1005-1013 9 p.

Research output: Contribution to journalArticle

Berberine
Leiomyoma
Pituitary Neoplasms
Cyclooxygenase 2
Oncogenes
4 Citations (Scopus)
Megalencephaly
Intellectual Disability
Genes
Microarrays
Chromosomes
4 Citations (Scopus)

Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome

Labonne, J. D. J., Chung, M. J., Jones, J. R., Anand, P., Wenzel, W., Iacoboni, D., Layman, L. C. & Kim, H. G., Jan 1 2016, In : Gene. 575, 1, p. 42-47 6 p.

Research output: Contribution to journalArticle

Coffin-Lowry Syndrome
Missense Mutation
Exons
Peptides
Mutation
1 Citation (Scopus)

Steric clash in the SET domain of histone methyltransferase NSD1 as a cause of sotos syndrome and its genetic heterogeneity in a Brazilian cohort

Ha, K., Anand, P., Lee, J. A., Jones, J. R., Kim, C. A., Bertola, D. R., Labonne, J. D. J., Layman, L. C., Wenzel, W. & Kim, H. G., Nov 2016, In : Genes. 7, 11, 96.

Research output: Contribution to journalArticle

Sotos Syndrome
Genetic Heterogeneity
Mutation
Missense Mutation
Intellectual Disability
18 Citations (Scopus)

Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Quaynor, S. D., Bosley, M. E., Duckworth, C. G., Porter, K. R., Kim, S. H., Kim, H. G., Chorich, L. P., Sullivan, M. E., Choi, J. H., Cameron, R. S. & Layman, L. C., Dec 5 2016, In : Molecular and Cellular Endocrinology. 437, p. 86-96 11 p.

Research output: Contribution to journalArticle

Kallmann Syndrome
Hypogonadism
Genes
Olfactory Pathways
Mutation
2015
8 Citations (Scopus)

A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies

Labonne, J. D. J., Vogt, J., Reali, L., Kong, I. K., Layman, L. C. & Kim, H. G., Dec 1 2015, In : American Journal of Medical Genetics, Part A. 167, 12, p. 3011-3018 8 p.

Research output: Contribution to journalArticle

Genes
Phenotype
Multiple Hereditary Exostoses
Genetic Association Studies
Extremities
10 Citations (Scopus)

Expanding the spectrum of founder mutations causing isolated gonadotropin-releasing hormone deficiency

Choi, J. H., Balasubramanian, R., Lee, P. H., Shaw, N. D., Hall, J. E., Plummer, L., Buck, C. L., Kottler, M. L., Jarzabek, K., Wołczynski, S., Quinton, R., Latronico, A. C., Dode, C., Ogata, T., Kim, H. G., Layman, L. C., Gusella, J. F. & Crowley, W. F., Oct 1 2015, In : Journal of Clinical Endocrinology and Metabolism. 100, 10, p. E1378-E1385

Research output: Contribution to journalArticle

Gonadotropin-Releasing Hormone
Genes
Mutation
Alleles
Heterozygote
4 Citations (Scopus)

Long-term follow-up of females with unbalanced X;Y translocations - Reproductive and nonreproductive consequences

Dobek, W. A., Kim, H. G., Walls, C. A., Chorich, L. P., Tho, S. P., Wang, Z. X., McDonough, P. G. & Layman, L. C., Dec 12 2015, In : Molecular Cytogenetics. 8, 1, 13.

Research output: Contribution to journalArticle

Genes
Gonadoblastoma
Kallmann Syndrome
Eye Abnormalities
Defects
33 Citations (Scopus)

MicroRNA-223 expression is upregulated in insulin resistant human adipose tissue

Chuang, T. Y., Wu, H. L., Chen, C. C., Gamboa, G. M., Layman, L. C., Diamond, M. P., Azziz, R. & Chen, Y-H., Jan 1 2015, In : Journal of Diabetes Research. 2015, 943659.

Research output: Contribution to journalArticle

MicroRNAs
Insulin Resistance
Adipose Tissue
Insulin
Facilitative Glucose Transport Proteins
11 Citations (Scopus)

NELF knockout is associated with impaired pubertal development and subfertility

Quaynor, S. D., Ko, E. K., Chorich, L. P., Sullivan, M. E., Demir, D., Waller, J. L., Kim, H. G., Cameron, R. S. & Layman, L. C., May 5 2015, In : Molecular and Cellular Endocrinology. 407, p. 26-36 11 p.

Research output: Contribution to journalArticle

Luteinizing Hormone
Nose
Infertility
Gonadotropin-Releasing Hormone
Neurons
41 Citations (Scopus)

Novel MED12 gene somatic mutations in women from the Southern United States with symptomatic uterine fibroids

Halder, S. K., Laknaur, A., Miller, J., Layman, L. C., Diamond, M. & Al-Hendy, A., Mar 17 2015, In : Molecular Genetics and Genomics. 290, 2, p. 505-511 7 p.

Research output: Contribution to journalArticle

Mediator Complex
Leiomyoma
Mutation
Genes
Exons
2014
3 Citations (Scopus)

Differential expression of nasal embryonic LHRH factor (NELF) variants in immortalized GnRH neuronal cell lines

Quaynor, S. D., Goldberg, L. Y., Ko, E. K., Stanley, R. K., Demir, D., Kim, H. G., Chorich, L. P., Cameron, R. S. & Layman, L. C., Mar 5 2014, In : Molecular and Cellular Endocrinology. 383, 1, p. 32-37 6 p.

Research output: Contribution to journalArticle

Nose
Gonadotropin-Releasing Hormone
Cells
Cell Line
Nuclear Localization Signals
12 Citations (Scopus)

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene

Bhagavath, B., Layman, L. C., Ullmann, R., Shen, Y., Ha, K., Rehman, K., Looney, S., McDonough, P. G., Kim, H. G. & Carr, B. R., Aug 5 2014, In : Molecular and Cellular Endocrinology. 393, 1-2, p. 1-7 7 p.

Research output: Contribution to journalArticle

Campomelic Dysplasia
Siblings
Genes
Polymerase chain reaction
DNA
1 Citation (Scopus)

Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up

Jun, K. R., Ullmann, R., Khan, S., Layman, L. C. & Kim, H. G., Aug 19 2014, In : Molecular Cytogenetics. 7, 1, 52.

Research output: Contribution to journalArticle

RNA-Directed DNA Polymerase
Chromosomes
Intellectual Disability
Genes
Reverse Transcriptase Polymerase Chain Reaction
15 Citations (Scopus)

The expression of the miR-25/93/106b family of micro-RNAs in the adipose tissue of women with polycystic ovary syndrome

Wu, H. L., Heneidi, S., Chuang, T. Y., Diamond, M. P., Layman, L. C., Azziz, R. & Chen, Y. H., Dec 1 2014, In : Journal of Clinical Endocrinology and Metabolism. 99, 12, p. E2754-E2761

Research output: Contribution to journalArticle

Polycystic Ovary Syndrome
MicroRNAs
Insulin Resistance
Adipose Tissue
Insulin
14 Citations (Scopus)

The historical Coffin-Lowry syndrome family revisited: Identification of two novel mutations of RPS6KA3 in three male patients

Nishimoto, H. K., Ha, K., Jones, J. R., Dwivedi, A., Cho, H. M., Layman, L. C. & Kim, H. G., Sep 2014, In : American Journal of Medical Genetics, Part A. 164, 9, p. 2172-2179 8 p.

Research output: Contribution to journalArticle

Coffin-Lowry Syndrome
Mutation
Phosphotransferases
Craniofacial Abnormalities
Muscle Hypotonia
2013
57 Citations (Scopus)

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

Nguyen, L. S., Kim, H. G., Rosenfeld, J. A., Shen, Y., Gusella, J. F., Lacassie, Y., Layman, L. C., Shaffer, L. G. & Gécz, J., May 1 2013, In : Human Molecular Genetics. 22, 9, p. 1816-1825 10 p., ddt035.

Research output: Contribution to journalArticle

Nonsense Mediated mRNA Decay
Intellectual Disability
Genes
Mutation
Nonsense Codon
74 Citations (Scopus)

Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant

Quaynor, S. D., Stradtman, E. W., Kim, H. G., Shen, Y., Chorich, L. P., Schreihofer, D. A. & Layman, L. C., Jan 1 2013, In : New England Journal of Medicine. 369, 2, p. 164-171 8 p.

Research output: Contribution to journalArticle

Delayed Puberty
Estrogen Receptors
Estrogens
Mutation
Androgen Receptors
15 Citations (Scopus)

Identification of HESX1 mutations in Kallmann syndrome

Newbern, K., Natrajan, N., Kim, H. G., Chorich, L. P., Halvorson, L. M., Cameron, R. S. & Layman, L. C., Jun 1 2013, In : Fertility and sterility. 99, 7, p. 1831-1837 7 p.

Research output: Contribution to journalArticle

Kallmann Syndrome
Mutation
Missense Mutation
Phenotype
DNA
98 Citations (Scopus)

Liquid chromatography-tandem mass spectrometry analysis of human adrenal vein 19-carbon steroids before and after ACTH stimulation

Rege, J., Nakamura, Y., Satoh, F., Morimoto, R., Kennedy, M. R., Layman, L. C., Honma, S., Sasano, H. & Rainey, W. E., Mar 1 2013, In : Journal of Clinical Endocrinology and Metabolism. 98, 3, p. 1182-1188 7 p.

Research output: Contribution to journalArticle

Liquid chromatography
Tandem Mass Spectrometry
Liquid Chromatography
Adrenocorticotropic Hormone
Androgens
111 Citations (Scopus)

Mirna-93 inhibits glut4 and is overexpressed in adipose tissue of polycystic ovary syndrome patients and women with insulin resistance

Chen, Y. H., Heneidi, S., Lee, J. M., Layman, L. C., Stepp, D. W., Gamboa, G. M., Chen, B. S., Chazenbalk, G. & Azziz, R., Jul 2013, In : Diabetes. 62, 7, p. 2278-2286 9 p.

Research output: Contribution to journalArticle

Polycystic Ovary Syndrome
MicroRNAs
Insulin Resistance
Adipose Tissue
Insulin
2012
41 Citations (Scopus)

Role of ART in imprinting disorders

Eroglu, A. & Layman, L. C., May 2 2012, In : Seminars in Reproductive Medicine. 30, 2, p. 92-104 13 p.

Research output: Contribution to journalArticle

Assisted Reproductive Techniques
Beckwith-Wiedemann Syndrome
Angelman Syndrome
Retinoblastoma
Infertility
29 Citations (Scopus)

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

Kim, H. G., Kim, H. T., Leach, N. T., Lan, F., Ullmann, R., Silahtaroglu, A., Kurth, I., Nowka, A., Seong, I. S., Shen, Y., Talkowski, M. E., Ruderfer, D., Lee, J. H., Glotzbach, C., Ha, K., Kjaergaard, S., Levin, A. V., Romeike, B. F., Kleefstra, T., Bartsch, O. & 15 others, Elsea, S. H., Jabs, E. W., MacDonald, M. E., Harris, D. J., Quade, B. J., Ropers, H. H., Shaffer, L. G., Kutsche, K., Layman, L. C., Tommerup, N., Kalscheuer, V. M., Shi, Y., Morton, C. C., Kim, C. H. & Gusella, J. F., Jul 13 2012, In : American journal of human genetics. 91, 1, p. 56-72 17 p.

Research output: Contribution to journalArticle

Intellectual Disability
Genes
Multiple Hereditary Exostoses
Haploinsufficiency
Lysine
2011
41 Citations (Scopus)

Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Xu, N., Kim, H. G., Bhagavath, B., Cho, S. G., Lee, J. H., Ha, K., Meliciani, I., Wenzel, W., Podolsky, R. H., Chorich, L. P., Stackhouse, K. A., Grove, A. M. H., Odom, L. N., Ozata, M., Bick, D. P., Sherins, R. J., Kim, S. H., Cameron, R. S. & Layman, L. C., Apr 2011, In : Fertility and sterility. 95, 5, p. 1613-1620.e7

Research output: Contribution to journalArticle

Kallmann Syndrome
Hypogonadism
Nose
Gonadotropin-Releasing Hormone
Mutation
53 Citations (Scopus)

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Quaynor, S. D., Kim, H. G., Cappello, E. M., Williams, T., Chorich, L. P., Bick, D. P., Sherins, R. J. & Layman, L. C., Jan 1 2011, In : Fertility and sterility. 96, 6

Research output: Contribution to journalArticle

Kallmann Syndrome
Hypogonadism
Mutation
Genes
Idiopathic Hypogonadotropic Hypogonadism
2010
18 Citations (Scopus)

Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations

Kim, H. G., Pedersen-White, J., Bhagavath, B. & Layman, L. C., Apr 8 2010, In : Frontiers of Hormone Research. 39, p. 94-110 17 p.

Research output: Contribution to journalArticle

LHRH Receptors
Genes
Genotype
Phenotype
Mutation
4 Citations (Scopus)
Hematocolpos
Vagina
Mucous Membrane
Catheters
Pressure
15 Citations (Scopus)

NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration

Xu, N., Bhagavath, B., Kim, H. G., Halvorson, L., Podolsky, R. S., Chorich, L. P., Prasad, P. D., Xiong, W., Cameron, R. S. & Layman, L. C., May 5 2010, In : Molecular and Cellular Endocrinology. 319, 1-2, p. 47-55 9 p.

Research output: Contribution to journalArticle

Nuclear Proteins
Nose
Gonadotropin-Releasing Hormone
Neurons
Nuclear Localization Signals
7 Citations (Scopus)

Rarer syndromes characterized by hypogonadotropic hypogonadism

Aminzadeh, M., Kim, H. G., Layman, L. C. & Cheetham, T. D., Apr 8 2010, In : Frontiers of Hormone Research. 39, p. 154-167 14 p.

Research output: Contribution to journalArticle

Hypogonadism
Gonadotropin-Releasing Hormone
Steroids
CHARGE Syndrome
Pituitary Hormone-Releasing Hormones
99 Citations (Scopus)

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Kim, H. G., Ahn, J. W., Kurth, I., Ullmann, R., Kim, H. T., Kulharya, A., Ha, K. S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., Ozata, M., Bick, D. P., Sherins, R. J., Nagase, T., Tekin, M., Kim, S. H., Kim, C. H., Ropers, H. H. & 4 others, Gusella, J. F., Kalscheuer, V., Choi, C. Y. & Layman, L. C., Oct 8 2010, In : American journal of human genetics. 87, 4, p. 465-479 15 p.

Research output: Contribution to journalArticle

Kallmann Syndrome
Transcription Factors
Proteins
Missense Mutation
Puberty
2009
37 Citations (Scopus)

Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes

Layman, L. C., Tho, S. P. T., Clark, A. D., Kulharya, A. & McDonough, P. G., Mar 1 2009, In : Fertility and sterility. 91, 3, p. 791-797 7 p.

Research output: Contribution to journalArticle

Ring Chromosomes
Y Chromosome
Testis
Karyotype
Testosterone
1 Citation (Scopus)

Retrieval of rhesus monkey (Macaca mulatta) oocytes by ultrasound-guided needle aspiration: Problems and solutions

Rodriguez, N. A., Si, W., Emmi, A. M., Layman, L. C. & Eroglu, A., Sep 1 2009, In : Molecular Reproduction and Development. 76, 9, p. 890-896 7 p.

Research output: Contribution to journalArticle

Macaca mulatta
Oocytes
Needles
Primates
Oocyte Retrieval
2008
23 Citations (Scopus)

Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone β subunit mutation

Lofrano-Porto, A., Casulari, L. A., Nascimento, P. P., Giacomini, L., Naves, L. A., da Motta, L. D. C. & Layman, L. C., Oct 1 2008, In : Fertility and sterility. 90, 4, p. 1169-1174 6 p.

Research output: Contribution to journalArticle

Follicle Stimulating Hormone
Chorionic Gonadotropin
Siblings
Steroids
Mutation
194 Citations (Scopus)

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Kim, H. G., Kurth, I., Lan, F., Meliciani, I., Wenzel, W., Eom, S. H., Kang, G. B., Rosenberger, G., Tekin, M., Ozata, M., Bick, D. P., Sherins, R. J., Walker, S. L., Shi, Y., Gusella, J. F. & Layman, L. C., Oct 10 2008, In : American journal of human genetics. 83, 4, p. 511-519 9 p.

Research output: Contribution to journalArticle

Kallmann Syndrome
Chromatin Assembly and Disassembly
Mutation
CHARGE Syndrome
Proteins
43 Citations (Scopus)

The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Pedersen-White, J. R., Chorich, L. P., Bick, D. P., Sherins, R. J. & Layman, L. C., Jun 1 2008, In : Molecular Human Reproduction. 14, 6, p. 367-370 4 p.

Research output: Contribution to journalArticle

Kallmann Syndrome
Multiplex Polymerase Chain Reaction
Genes
Mutation
Inborn Genetic Diseases
2007
29 Citations (Scopus)

A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism

Xu, N., Qin, Y., Reindollar, R. H., Tho, S. P. T., McDonough, P. G. & Layman, L. C., Mar 2007, In : Journal of Clinical Endocrinology and Metabolism. 92, 3, p. 1155-1158 4 p.

Research output: Contribution to journalArticle

Receptor, Fibroblast Growth Factor, Type 1
Hypogonadism
Genes
Kallmann Syndrome
Mutation
27 Citations (Scopus)

KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans

Bhagavath, B., Xu, N., Ozata, M., Rosenfield, R. L., Bick, D. P., Sherins, R. J. & Layman, L. C., Mar 1 2007, In : Molecular Human Reproduction. 13, 3, p. 25-30 6 p.

Research output: Contribution to journalArticle

Mutation
Kallmann Syndrome
Idiopathic Hypogonadotropic Hypogonadism
Denaturing Gradient Gel Electrophoresis
Hypogonadism
16 Citations (Scopus)

Long-term follow-up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex

Tho, S. P., Jackson, R., Kulharya, A. S., Reindollar, R. H., Layman, L. C. & McDonough, P. G., Nov 1 2007, In : American Journal of Medical Genetics, Part A. 143, 21, p. 2616-2622 7 p.

Research output: Contribution to journalArticle

Monozygotic Twins
Karyotype
Testis
Gonadal Dysgenesis
Foreskin
4 Citations (Scopus)

Successful management of cervical pregnancy with medical intervention only: A case report

Emmi, A. M., Devoe, L. D., Chudgar, D. B., Holsten, E. & Layman, L. C., Oct 1 2007, In : Journal of Reproductive Medicine for the Obstetrician and Gynecologist. 52, 10, p. 950-952 3 p.

Research output: Contribution to journalArticle

Pregnancy
Fertilization in Vitro
Hemorrhage
Tubal Pregnancy
Pregnancy Tests
2006
79 Citations (Scopus)

Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism

Bhagavath, B., Podolsky, R. H., Ozata, M., Bolu, E., Bick, D. P., Kulharya, A., Sherins, R. J. & Layman, L. C., Jan 1 2006, In : Fertility and Sterility. 85, 3, p. 706-713 8 p.

Research output: Contribution to journalArticle

Hypogonadism
Karyotype
Mutation
Medical Records
Idiopathic Hypogonadotropic Hypogonadism
2005
12 Citations (Scopus)

Screening candidate genes for mutations in patients with hypogonadotropic hypogonadism using custom genome resequencing microarrays

Xu, N., Podolsky, R. H., Chudgar, P., Chorich, L. P., Liu, C., McDonough, P. G., Warrington, J. A. & Layman, L. C., Jan 1 2005, In : American Journal of Obstetrics and Gynecology. 192, 4, p. 1274-1282 9 p.

Research output: Contribution to journalArticle

Hypogonadism
DNA Sequence Analysis
Genome
Mutation
Genes