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Dwyer, Andrew A, Stamou, Maria, McDonald, Isabella R, Anghel, Ella, Cox, Kimberly H, Salnikov, Kathryn B, Plummer, Lacey, Seminara, Stephanie B, Balasubramanian, Ravikumar
Published in Frontiers in endocrinology (Lausanne) (02.11.2022)
Published in Frontiers in endocrinology (Lausanne) (02.11.2022)
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Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms
Cassin, Jessica, Stamou, Maria I, Keefe, Kimberly W, Sung, Kaitlin E, Bojo, Celine C, Tonsfeldt, Karen J, Rojas, Rebecca A, Ferreira Lopes, Vanessa, Plummer, Lacey, Salnikov, Kathryn B, Keefe, Jr, David L, Ozata, Metin, Genel, Myron, Georgopoulos, Neoklis A, Hall, Janet E, Crowley, Jr, William F, Seminara, Stephanie B, Mellon, Pamela L, Balasubramanian, Ravikumar
Published in JCI insight (08.02.2023)
Published in JCI insight (08.02.2023)
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Expanding the Spectrum of Endocrine Abnormalities Associated with SOX11-related Disorders
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Published in The journal of clinical endocrinology and metabolism (18.09.2024)
Published in The journal of clinical endocrinology and metabolism (18.09.2024)
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Reproductive Phenotypes and Genotypes in Men With IHH
Dwyer, Andrew A, Stamou, Maria I, Anghel, Ella, Hornstein, Shira, Chen, Danna, Salnikov, Kathryn B, McDonald, Isabella R, Plummer, Lacey, Seminara, Stephanie B, Balasubramanian, Ravikumar
Published in The journal of clinical endocrinology and metabolism (01.04.2023)
Published in The journal of clinical endocrinology and metabolism (01.04.2023)
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Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants
Rojas, Rebecca A., Kutateladze, Anna A., Plummer, Lacey, Stamou, Maria, Keefe, David L., Salnikov, Kathryn B., Delaney, Angela, Hall, Janet E., Sadreyev, Ruslan, Ji, Fei, Fliers, Eric, Gambosova, Katarina, Quinton, Richard, Merino, Paulina M., Mericq, Veronica, Seminara, Stephanie B., Crowley, William F., Balasubramanian, Ravikumar
Published in Genetics in medicine (01.06.2023)
Published in Genetics in medicine (01.06.2023)
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Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose
Delaney, Angela, Volochayev, Rita, Meader, Brooke, Lee, Janice, Almpani, Konstantinia, Noukelak, Germaine Y, Henkind, Jennifer, Chalmers, Laura, Law, Jennifer R, Williamson, Kathleen A, Jacobsen, Christina M, Buitrago, Tatiana Pineda, Perez, Orlando, Cho, Chie-Hee, Kaindl, Angela, Rauch, Anita, Steindl, Katharina, Garcia, Jose Elias, Russell, Bianca E, Prasad, Rameshwar, Mondal, Uttam K, Reigstad, Hallvard M, Clements, Scott, Kim, Susan, Inoue, Kaoru, Arora, Gazal, Salnikov, Kathryn B, DiOrio, Nicole P, Prada, Rolando, Capri, Yline, Morioka, Kosuke, Mizota, Michiyo, Zechi-Ceide, Roseli M, Kokitsu-Nakata, Nancy M, Tonello, Cristiano, Vendramini-Pittoli, Siulan, da Silva Dalben, Gisele, Balasubramanian, Ravikumar, Dwyer, Andrew A, Seminara, Stephanie B, Crowley, William F, Plummer, Lacey, Hall, Janet E, Graham, John M, Lin, Angela E, Shaw, Natalie D
Published in The journal of clinical endocrinology and metabolism (01.05.2020)
Published in The journal of clinical endocrinology and metabolism (01.05.2020)
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Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations
Stamou, Maria I, Chiu, Crystal J, Jadhav, Shreya V, Lopes, Vanessa Ferreira, Salnikov, Kathryn B, Plummer, Lacey, Lippincott, Margaret F, Lee, Hang, Seminara, Stephanie B, Balasubramanian, Ravikumar
Published in Journal of the Endocrine Society (01.07.2024)
Published in Journal of the Endocrine Society (01.07.2024)
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FRI285 Evidence For ZIC1 As A Novel Gene For Isolated Hypogonadotropic Hypogonadism With Phenotypic Pleiotropic Intersection With Cerebellar Malformation
Cassin, Jessica, Keefe, David L, Sung, Kaitlin E, Bojo, Celine C, Santiago, Gisselle, Plummer, Lacey, Salnikov, Kathryn B, Seminara, Stephanie B, Balasubramania, Ravikumar, Mellon, Pamela L
Published in Journal of the Endocrine Society (05.10.2023)
Published in Journal of the Endocrine Society (05.10.2023)
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Journal Article
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants
Rojas, Rebecca A., Kutateladze, Anna A., Plummer, Lacey, Stamou, Maria, Keefe, David L., Salnikov, Kathryn B., Delaney, Angela, Hall, Janet E., Sadreyev, Ruslan, Ji, Fei, Fliers, Eric, Gambosova, Katarina, Quinton, Richard, Merino, Paulina M., Mericq, Veronica, Seminara, Stephanie B., Crowley, William F., Balasubramanian, Ravikumar
Published in Genetics in medicine (01.04.2021)
Published in Genetics in medicine (01.04.2021)
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