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1 . Academic Journal
Hemojuvelin regulates hepcidin expression via a selective subset of BMP ligands and receptors independently of neogenin
저자
by
Xia, Yin
;
Babitt, Jodie L.
;
Sidis, Yisrael
;
Chung, Raymond T.
;
Lin, Herbert Y.
.
소스
In
Blood
15 May 2008 111(10):5195-5204
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7 . Academic Journal
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
저자
by
Messina, Andrea
;
Pulli, Kristiina
;
Santini, Sara
;
Acierno, James
;
Känsäkoski, Johanna
, et al.
소스
American Journal of Human Genetics
. Jan2020, Vol. 106 Issue 1, p58-70. 13p.
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7 . Academic Journal
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
저자
by
Bouilly, Justine
;
Messina, Andrea
;
Papadakis, Georgios
;
Cassatella, Daniele
;
Cheng Xu
, et al.
소스
Human Molecular Genetics; 1/15/2018, Vol. 27 Issue 2, p359-372, 14p
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7 . Academic Journal
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
저자
by
Xu, Cheng
;
Messina, Andrea
;
Somm, Emmanuel
;
Miraoui, Hichem
;
Kinnunen, Tarja
, et al.
소스
EMBO Molecular Medicine; Oct2017, Vol. 9 Issue 10, p1379-1397, 19p
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7 . Periodical
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations
저자
by
Villanueva, Carine
;
Jacobson-Dickman, Elka
;
Xu, Cheng
;
Manouvrier, Sylvie
;
Dwyer, Andrew A.
, et al.
소스
Genetics in Medicine; August 2015, Vol. 17 Issue: 8 p651-659, 9p
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7 .
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism
저자
by
Andrew A. Dwyer
;
Cheng Xu
;
Federico Santoni
;
Samuel A. Malone
;
Gaetan Ternier
, et al.
소스
Am J Hum Genet
Open Access (OpenAIRE)
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7 . Periodical
FGFR1and PROKR2rare variants found in patients with combined pituitary hormone deficiencies
저자
by
Correa, Fernanda A
;
Trarbach, Ericka B
;
Tusset, Cintia
;
Latronico, Ana Claudia
;
Montenegro, Luciana R
, et al.
소스
Endocrine Connections; June 2015, Vol. 4 Issue: 2 p100-107, 8p
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7 . Academic Journal
Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH)
저자
by
Koika, Vasiliki
;
Varnavas, Petros
;
Valavani, Helen
;
Sidis, Yisrael
;
Plummer, Lacey
, et al.
소스
Gene
. Mar2013, Vol. 516 Issue 1, p146-151. 6p.
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7 . Academic Journal
Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia
저자
by
Raivio, Taneli
;
Avbelj, Magdalena
;
McCabe, Mark J.
;
Romero, Christopher J.
;
Dwyer, Andrew A.
, et al.
소스
The Journal of Clinical Endocrinology & Metabolism
. Apr 01, 2012 97(4):E694-E699
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7 . Academic Journal
The Role of the Prokineticin 2 Pathway in Human Reproduction: Evidence from the Study of Human and Murine Gene Mutations
저자
by
Martin, Cecilia
;
Balasubramanian, Ravikumar
;
Dwyer, Andrew A.
;
Au, Margaret G.
;
Sidis, Yisrael
, et al.
소스
Endocrine Reviews
. Apr 01, 2011 32(2):225-246
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