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Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea
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Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea

Delaney, Angela ; Burkholder, Adam B ; Lavender, Christopher A ; Plummer, Lacey ; Mericq, Veronica ; Merino, Paulina M ; Quinton, Richard ; Lewis, Katie L ; Meader, Brooke N ; Albano, Alessandro ; Shaw, Natalie D ; Welt, Corrine K ; Martin, Kathryn A ; Seminara, Stephanie B ; Biesecker, Leslie G ; Bailey-Wilson, Joan E ; Hall, Janet E

The journal of clinical endocrinology and metabolism, 2021-03, Vol.106 (3), p.e1441-e1452 [Periódico revisado por pares]

US: Oxford University Press

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2
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty
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Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty

Duckett, Katie ; Williamson, Alice ; Kincaid, John W R ; Rainbow, Kara ; Corbin, Laura J ; Martin, Hilary C ; Eberhardt, Ruth Y ; Huang, Qin Qin ; Hurles, Matthew E ; He, Wen ; Brauner, Raja ; Delaney, Angela ; Dunkel, Leo ; Grinspon, Romina P ; Hall, Janet E ; Hirschhorn, Joel N ; Howard, Sasha R ; Latronico, Ana C ; Jorge, Alexander A L ; McElreavey, Ken ; Mericq, Verónica ; Merino, Paulina M ; Palmert, Mark R ; Plummer, Lacey ; Rey, Rodolfo A ; Rezende, Raíssa C ; Seminara, Stephanie B ; Salnikov, Kathryn ; Banerjee, Indraneel ; Lam, Brian Y H ; Perry, John R B ; Timpson, Nicholas J ; Clayton, Peter ; Chan, Yee-Ming ; Ong, Ken K ; O’Rahilly, Stephen

The journal of clinical endocrinology and metabolism, 2023-11, Vol.108 (12), p.e1580-e1587 [Periódico revisado por pares]

US: Oxford University Press

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3
Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism
Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism
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Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism

Stamou, Maria I ; Brand, Harrison ; Wang, Mei ; Wong, Isaac ; Lippincott, Margaret F ; Plummer, Lacey ; Crowley, William F ; Talkowski, Michael ; Seminara, Stephanie ; Balasubramanian, Ravikumar

The journal of clinical endocrinology and metabolism, 2022-07, Vol.107 (8), p.2228-2242 [Periódico revisado por pares]

United States: Oxford University Press

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4
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
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Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

Pitteloud, Nelly ; Quinton, Richard ; Pearce, Simon ; Raivio, Taneli ; Acierno, James ; Dwyer, Andrew ; Plummer, Lacey ; Hughes, Virginia ; Seminara, Stephanie ; Cheng, Yu-Zhu ; Li, Wei-Ping ; Maccoll, Gavin ; Eliseenkova, Anna V ; Olsen, Shaun K ; Ibrahimi, Omar A ; Hayes, Frances J ; Boepple, Paul ; Hall, Janet E ; Bouloux, Pierre ; Mohammadi, Moosa ; Crowley, William

The Journal of clinical investigation, 2007-02, Vol.117 (2), p.457-463 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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5
Loss-of-Function Mutation in the Prokineticin 2 Gene Causes Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism
Loss-of-Function Mutation in the Prokineticin 2 Gene Causes Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism
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Loss-of-Function Mutation in the Prokineticin 2 Gene Causes Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism

Pitteloud, Nelly ; Zhang, Chengkang ; Pignatelli, Duarte ; Li, Jia-Da ; Raivio, Taneli ; Cole, Lindsay W. ; Plummer, Lacey ; Jacobson-Dickman, Elka E. ; Mellon, Pamela L. ; Zhou, Qun-Yong ; Crowley, William F.

Proceedings of the National Academy of Sciences - PNAS, 2007-10, Vol.104 (44), p.17447-17452 [Periódico revisado por pares]

United States: National Academy of Sciences

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6
Reproductive Phenotypes and Genotypes in Men With IHH
Reproductive Phenotypes and Genotypes in Men With IHH
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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

The journal of clinical endocrinology and metabolism, 2023-04, Vol.108 (4), p.897-908 [Periódico revisado por pares]

US: Oxford University Press

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7
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

Sykiotis, Gerasimos P. ; Plummer, Lacey ; Hughes, Virginia A. ; Au, Margaret ; Durrani, Sadia ; Nayak-Young, Sadhana ; Dwyer, Andrew A. ; Quinton, Richard ; Hall, Janet E. ; Gusella, James F. ; Seminara, Stephanie B. ; Crowley, William F. ; Pitteloud, Nelly ; Donahoe, Patricia K.

Proceedings of the National Academy of Sciences - PNAS, 2010-08, Vol.107 (34), p.15140-15144 [Periódico revisado por pares]

United States: National Academy of Sciences

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8
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations
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Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

Villanueva, Carine ; Jacobson-Dickman, Elka ; Xu, Cheng ; Manouvrier, Sylvie ; Dwyer, Andrew A ; Sykiotis, Gerasimos P ; Beenken, Andrew ; Liu, Yang ; Tommiska, Johanna ; Hu, Youli ; Tiosano, Dov ; Gerard, Marion ; Leger, Juliane ; Drouin-Garraud, Valérie ; Lefebvre, Hervé ; Polak, Michel ; Carel, Jean-Claude ; Phan-Hug, Franziska ; Hauschild, Michael ; Plummer, Lacey ; Rey, Jean-Pierre ; Raivio, Taneli ; Bouloux, Pierre ; Sidis, Yisrael ; Mohammadi, Moosa ; de Roux, Nicolas ; Pitteloud, Nelly

Genetics in medicine, 2015-08, Vol.17 (8), p.651-659 [Periódico revisado por pares]

United States: Elsevier Limited

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9
Reversal and Relapse of Hypogonadotropic Hypogonadism: Resilience and Fragility of the Reproductive Neuroendocrine System
Reversal and Relapse of Hypogonadotropic Hypogonadism: Resilience and Fragility of the Reproductive Neuroendocrine System
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Reversal and Relapse of Hypogonadotropic Hypogonadism: Resilience and Fragility of the Reproductive Neuroendocrine System

Sidhoum, Valerie F ; Chan, Yee-Ming ; Lippincott, Margaret F ; Balasubramanian, Ravikumar ; Quinton, Richard ; Plummer, Lacey ; Dwyer, Andrew ; Pitteloud, Nelly ; Hayes, Frances J ; Hall, Janet E ; Martin, Kathryn A ; Boepple, Paul A ; Seminara, Stephanie B

The journal of clinical endocrinology and metabolism, 2014-03, Vol.99 (3), p.861-870 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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10
Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History
Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History
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Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History

Dwyer, Andrew A ; Chavan, Niraj R ; Lewkowitz-Shpuntoff, Hilana ; Plummer, Lacey ; Hayes, Frances J ; Seminara, Stephanie B ; Crowley, William F ; Pitteloud, Nelly ; Balasubramanian, Ravikumar

The journal of clinical endocrinology and metabolism, 2019-08, Vol.104 (8), p.3403-3414 [Periódico revisado por pares]

Washington, DC: Endocrine Society

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