-
1
-
-
77952884443
-
Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes
-
Davis SW, Castinetti F, Carvalho LR, Ellsworth BS, Potok MA, Lyons RH, Brinkmeier ML, Raetzman LT, Carninci P, Mortensen AH et al. Molecular mechanisms of pituitary organogenesis: in search of novel regulatory genes. Molecular and Cellular Endocrinology 2010 323 4-19. (doi:10.1016/j.mce.2009.12.012)
-
(2010)
Molecular and Cellular Endocrinology
, vol.3
-
-
Davis, S.W.1
Castinetti, F.2
Carvalho, L.R.3
Ellsworth, B.S.4
Potok, M.A.5
Lyons, R.H.6
Brinkmeier, M.L.7
Raetzman, L.T.8
Carninci, P.9
Mortensen, A.H.10
-
2
-
-
73249143539
-
Genetic regulation of pituitary gland development in human and mouse
-
Kelberman D, Rizzoti K, Lovell-Badge R, Robinson IC & Dattani MT. Genetic regulation of pituitary gland development in human and mouse. Endocrine Reviews 2009 30 790-829. (doi:10.1210/er.2009-0008)
-
(2009)
Endocrine Reviews
, vol.30
, pp. 790-829
-
-
Kelberman, D.1
Rizzoti, K.2
Lovell-Badge, R.3
Robinson, I.C.4
Dattani, M.T.5
-
3
-
-
84859524036
-
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia
-
Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V et al. Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. Journal of Clinical Endocrinology and Metabolism 2012 97 E694-E699. (doi:10.1210/jc.2011-2938)
-
(2012)
Journal of Clinical Endocrinology and Metabolism
, vol.97
, pp. E694-E699
-
-
Raivio, T.1
Avbelj, M.2
McCabe, M.J.3
Romero, C.J.4
Dwyer, A.A.5
Tommiska, J.6
Sykiotis, G.P.7
Gregory, L.C.8
Diaczok, D.9
Tziaferi, V.10
-
4
-
-
36048934978
-
The preplacodal region: An ectodermal domain with multipotential progenitors that contribute to sense organs and cranial sensory ganglia
-
Streit A. The preplacodal region: an ectodermal domain with multipotential progenitors that contribute to sense organs and cranial sensory ganglia. International Journal of Developmental Biology 2007 51 447-461. (doi:10.1387/ijdb.072327as)
-
(2007)
International Journal of Developmental Biology
, vol.51
, pp. 447-461
-
-
Streit, A.1
-
5
-
-
80053551866
-
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction
-
McCabeMJ, Gaston-Massuet C, Tziaferi V, Gregory LC, Alatzoglou KS, SignoreM, Puelles E, Gerrelli D, Farooqi IS, Raza J et al. Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction. Journal of Clinical Endocrinology andMetabolism 2011 96 E1709-E1718. (doi:10.1210/jc.2011-0454)
-
(2011)
Journal of Clinical Endocrinology andMetabolism
, vol.96
, pp. E1709-E1718
-
-
McCabe, M.J.1
Gaston-Massuet, C.2
Tziaferi, V.3
Gregory, L.C.4
Alatzoglou, K.S.5
Signore, M.6
Puelles, E.7
Gerrelli, D.8
Farooqi, I.S.9
Raza, J.10
-
6
-
-
33645219817
-
Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2
-
Matsumoto S, Yamazaki C, Masumoto KH, Nagano M, Naito M, Soga T, Hiyama H, Matsumoto M, Takasaki J, Kamohara M et al. Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2. PNAS 2006 103 4140-4145. (doi:10.1073/pnas.0508881103)
-
(2006)
PNAS
, vol.103
, pp. 4140-4145
-
-
Matsumoto, S.1
Yamazaki, C.2
Masumoto, K.H.3
Nagano, M.4
Naito, M.5
Soga, T.6
Hiyama, H.7
Matsumoto, M.8
Takasaki, J.9
Kamohara, M.10
-
7
-
-
0037205491
-
Identification and molecular characterization of two closely related G protein-coupled receptors activated by prokineticins/endocrine gland vascular endothelial growth factor
-
Lin DC, Bullock CM, Ehlert FJ, Chen JL, Tian H & Zhou QY. Identification and molecular characterization of two closely related G protein-coupled receptors activated by prokineticins/endocrine gland vascular endothelial growth factor. Journal of Biological Chemistry 2002 277 19276-19280. (doi:10.1074/jbc.M202139200)
-
(2002)
Journal of Biological Chemistry
, vol.277
, pp. 19276-19280
-
-
Lin, D.C.1
Bullock, C.M.2
Ehlert, F.J.3
Chen, J.L.4
Tian, H.5
Zhou, Q.Y.6
-
8
-
-
53749103334
-
Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome
-
Abreu AP, Trarbach EB, de Castro M, Frade Costa EM, Versiani B, Matias Baptista MT, Garmes HM, Mendonca BB & Latronico AC. Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. Journal of Clinical Endocrinology and Metabolism 2008 93 4113-4118. (doi:10.1210/jc.2008-0958)
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, pp. 4113-4118
-
-
Abreu, A.P.1
Trarbach, E.B.2
de Castro, M.3
Frade Costa, E.M.4
Versiani, B.5
Matias Baptista, M.T.6
Garmes, H.M.7
Mendonca, B.B.8
Latronico, A.C.9
-
9
-
-
20244366799
-
Lossof-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
-
Dodé C, Levilliers J,DupontJM,De Paepe A, LeDû N, Soussi-YanicostasN, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F et al. Lossof-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nature Genetics 2003 33 463-465. (doi:10.1038/ng1122)
-
(2003)
Nature Genetics
, vol.33
, pp. 463-465
-
-
Dodé, C.1
Levilliers, J.2
Dupont, J.M.3
De Paepe, A.4
LeDû, N.5
Soussi-Yanicostas, N.6
Coimbra, R.S.7
Delmaghani, S.8
Compain-Nouaille, S.9
Baverel, F.10
-
10
-
-
33750471153
-
Kallmann syndrome: Mutations in the genes encoding prokineticin-2 and prokineticin receptor-2
-
Dodé C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A et al. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genetics 2006 2 e175. (doi:10.1371/ journal.pgen.0020175)
-
(2006)
PLoS Genetics
, vol.2
-
-
Dodé, C.1
Teixeira, L.2
Levilliers, J.3
Fouveaut, C.4
Bouchard, P.5
Kottler, M.L.6
Lespinasse, J.7
Lienhardt-Roussie, A.8
Mathieu, M.9
Moerman, A.10
-
11
-
-
36849044530
-
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
-
Pitteloud N, Zhang C, Pignatelli D, Li JD, Raivio T, Cole LW, Plummer L, Jacobson-Dickman EE, Mellon PL, Zhou QY et al. Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. PNAS 2007 104 17447-17452. (doi:10.1073/pnas.0707173104)
-
(2007)
PNAS
, vol.104
, pp. 17447-17452
-
-
Pitteloud, N.1
Zhang, C.2
Pignatelli, D.3
Li, J.D.4
Raivio, T.5
Cole, L.W.6
Plummer, L.7
Jacobson-Dickman, E.E.8
Mellon, P.L.9
Zhou, Q.Y.10
-
12
-
-
33749540842
-
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia
-
Trarbach EB, Costa EM,Versiani B, de CastroM,BaptistaMT,GarmesHM, de Mendonca BB&Latronico AC. Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. Journal of Clinical Endocrinology and Metabolism 2006 91 4006-4012. (doi:10.1210/jc.2005-2793)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, pp. 4006-4012
-
-
Trarbach, E.B.1
Costa, E.M.2
Versiani, B.3
de Castro, M.4
Baptista, M.T.5
Garmes, H.M.6
de Mendonca, B.B.7
Latronico, A.C.8
-
13
-
-
84922453808
-
Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation
-
Asakura Y, Muroya K, Hanakawa J, Sato T, Aida N, Narumi S, Hasegawa T & AdachiM. Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation. Clinical Pediatric Endocrinology 2015 24 27-32. (doi:10.1297/cpe.24.27)
-
(2015)
Clinical Pediatric Endocrinology
, vol.24
, pp. 27-32
-
-
Asakura, Y.1
Muroya, K.2
Hanakawa, J.3
Sato, T.4
Aida, N.5
Narumi, S.6
Hasegawa, T.7
Adachi, M.8
-
14
-
-
0013977629
-
Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965, II
-
Tanner JM, Whitehouse RH & Takaishi M. Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965, II. Archives of Disease in Childhood 1966 41 613-635. (doi:10.1136/adc.41.220.613)
-
(1966)
Archives of Disease in Childhood
, vol.41
, pp. 613-635
-
-
Tanner, J.M.1
Whitehouse, R.H.2
Takaishi, M.3
-
15
-
-
70449103248
-
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism
-
Raivio T, Sidis Y, Plummer L, Chen H, Ma J, Mukherjee A, Jacobson-Dickman E, Quinton R, Van Vliet G, Lavoie H et al. Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. Journal of Clinical Endocrinology and Metabolism 2009 94 4380-4390. (doi:10.1210/jc.2009-0179)
-
(2009)
Journal of Clinical Endocrinology and Metabolism
, vol.94
, pp. 4380-4390
-
-
Raivio, T.1
Sidis, Y.2
Plummer, L.3
Chen, H.4
Ma, J.5
Mukherjee, A.6
Jacobson-Dickman, E.7
Quinton, R.8
Van Vliet, G.9
Lavoie, H.10
-
16
-
-
51649125515
-
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophinreleasing hormone deficiency: Molecular genetics and clinical spectrum
-
Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ et al. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophinreleasing hormone deficiency: molecular genetics and clinical spectrum. Journal of Clinical Endocrinology and Metabolism 2008 93 3551-3559. (doi:10.1210/jc.2007-2654)
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, pp. 3551-3559
-
-
Cole, L.W.1
Sidis, Y.2
Zhang, C.3
Quinton, R.4
Plummer, L.5
Pignatelli, D.6
Hughes, V.A.7
Dwyer, A.A.8
Raivio, T.9
Hayes, F.J.10
-
17
-
-
77957001039
-
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
-
Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak-Young S, Dwyer AA, Quinton R, Hall JE, Gusella JF et al. Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. PNAS 2010 107 15140-15144. (doi:10.1073/pnas.1009622107)
-
(2010)
PNAS
, vol.107
, pp. 15140-15144
-
-
Sykiotis, G.P.1
Plummer, L.2
Hughes, V.A.3
Au, M.4
Durrani, S.5
Nayak-Young, S.6
Dwyer, A.A.7
Quinton, R.8
Hall, J.E.9
Gusella, J.F.10
-
18
-
-
0035835469
-
West Midlands Prospective Hypopituitary Study Group
-
Tomlinson JW, Holden N, Hills RK, Wheatley K, Clayton RN, Bates AS, Sheppard MC & Stewart PM. Association between premature mortality and hypopituitarism. West Midlands Prospective Hypopituitary Study Group. Lancet 2001 357 425-431. (doi:10.1016/S0140-6736(00)04006-X)
-
(2001)
Lancet
, vol.357
, pp. 425-431
-
-
Tomlinson, J.W.1
Holden, N.2
Hills, R.K.3
Wheatley, K.4
Clayton, R.N.5
Bates, A.S.6
Sheppard, M.C.7
Stewart, P.M.8
-
19
-
-
84908244579
-
Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism
-
Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, Igarashi M, Maruyama T, Sano S, Horikawa R, Sato N et al. Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism. Fertility and Sterility 2014 102 1130-1136.e3. (doi:10.1016/j.fertnstert.2014.06.017)
-
(2014)
Fertility and Sterility
, vol.102
-
-
Izumi, Y.1
Suzuki, E.2
Kanzaki, S.3
Yatsuga, S.4
Kinjo, S.5
Igarashi, M.6
Maruyama, T.7
Sano, S.8
Horikawa, R.9
Sato, N.10
-
20
-
-
68949218044
-
Congenital hypopituitarism: Clinical, molecular and neuroradiological correlates
-
Mehta A, Hindmarsh PC, Mehta H, Turton JP, Russell-Eggitt I, Taylor D, Chong WK & Dattani MT. Congenital hypopituitarism: clinical, molecular and neuroradiological correlates. Clinical Endocrinology 2009 71 376-382. (doi:10.1111/j.1365-2265.2009.03572.x)
-
(2009)
Clinical Endocrinology
, vol.71
, pp. 376-382
-
-
Mehta, A.1
Hindmarsh, P.C.2
Mehta, H.3
Turton, J.P.4
Russell-Eggitt, I.5
Taylor, D.6
Chong, W.K.7
Dattani, M.T.8
-
21
-
-
0036847869
-
Pituitarymagnetic resonance imaging and function in patients with growth hormone deficiency with and without mutationsinGHRH-R,GH-1,orPROP-1 genes
-
Osorio MG,Marui S, Jorge AA, Latronico AC, Lo LS, Leite CC, Estefan V, Mendonca BB & Arnhold IJ. Pituitarymagnetic resonance imaging and function in patients with growth hormone deficiency with and without mutationsinGHRH-R,GH-1,orPROP-1 genes. Journal ofClinical Endocrinology and Metabolism 2002 87 5076-5084. (doi:10.1210/jc.2001-011936)
-
(2002)
Journal ofClinical Endocrinology and Metabolism
, vol.87
, pp. 5076-5084
-
-
Osorio, M.G.1
Marui, S.2
Jorge, A.A.3
Latronico, A.C.4
Lo, L.S.5
Leite, C.C.6
Estefan, V.7
Mendonca, B.B.8
Arnhold, I.J.9
-
22
-
-
0036532031
-
Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion
-
Vermeulen S, Messiaen L, Scheir P, De Bie S, Speleman F & De Paepe A. Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion. American Journal of Medical Genetics 2002 108 315-318. (doi:10.1002/ajmg.10295)
-
(2002)
American Journal of Medical Genetics
, vol.108
, pp. 315-318
-
-
Vermeulen, S.1
Messiaen, L.2
Scheir, P.3
De Bie, S.4
Speleman, F.5
De Paepe, A.6
-
23
-
-
84883409716
-
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency
-
Fukami M, Iso M, Sato N, Igarashi M, Seo M, Kazukawa I, Kinoshita E, Dateki S & Ogata T. Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. Endocrine Journal 2013 60 1013-1020. (doi:10.1507/endocrj.EJ13-0023)
-
(2013)
Endocrine Journal
, vol.60
, pp. 1013-1020
-
-
Fukami, M.1
Iso, M.2
Sato, N.3
Igarashi, M.4
Seo, M.5
Kazukawa, I.6
Kinoshita, E.7
Dateki, S.8
Ogata, T.9
-
24
-
-
84861995511
-
PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption
-
Reynaud R, Jayakody SA, Monnier C, Saveanu A, Bouligand J, Guedj AM, Simonin G, Lecomte P, Barlier A, Rondard P et al. PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption. Journal of Clinical Endocrinology and Metabolism 2012 97 E1068-E1073. (doi:10.1210/jc.2011-3056)
-
(2012)
Journal of Clinical Endocrinology and Metabolism
, vol.97
, pp. E1068-E1073
-
-
Reynaud, R.1
Jayakody, S.A.2
Monnier, C.3
Saveanu, A.4
Bouligand, J.5
Guedj, A.M.6
Simonin, G.7
Lecomte, P.8
Barlier, A.9
Rondard, P.10
-
25
-
-
84874903895
-
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia
-
McCabe MJ, Gaston-Massuet C, Gregory LC, Alatzoglou KS, Tziaferi V, Sbai O, Rondard P, Masumoto KH, Nagano M, Shigeyoshi Y et al. Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. Journal of Clinical Endocrinology and Metabolism 2013 98 E547-E557. (doi:10.1210/jc.2012-3067)
-
(2013)
Journal of Clinical Endocrinology and Metabolism
, vol.98
, pp. E547-E557
-
-
McCabe, M.J.1
Gaston-Massuet, C.2
Gregory, L.C.3
Alatzoglou, K.S.4
Tziaferi, V.5
Sbai, O.6
Rondard, P.7
Masumoto, K.H.8
Nagano, M.9
Shigeyoshi, Y.10
-
26
-
-
84864477056
-
Evidence of the importance of the first intracellular loop of prokineticin receptor 2 in receptor function
-
Abreu AP, Noel SD, Xu S, Carroll RS, Latronico AC & Kaiser UB. Evidence of the importance of the first intracellular loop of prokineticin receptor 2 in receptor function. Molecular Endocrinology 2012 26 1417-1427. (doi:10.1210/me.2012-1102)
-
(2012)
Molecular Endocrinology
, vol.26
, pp. 1417-1427
-
-
Abreu, A.P.1
Noel, S.D.2
Xu, S.3
Carroll, R.S.4
Latronico, A.C.5
Kaiser, U.B.6
-
27
-
-
57649205374
-
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity
-
Monnier C, Dode C, Fabre L, Teixeira L, Labesse G, Pin JP, Hardelin JP & Rondard P. PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity. Human Molecular Genetics 2009 18 75-81. (doi:10.1093/hmg/ddn318)
-
(2009)
Human Molecular Genetics
, vol.18
, pp. 75-81
-
-
Monnier, C.1
Dode, C.2
Fabre, L.3
Teixeira, L.4
Labesse, G.5
Pin, J.P.6
Hardelin, J.P.7
Rondard, P.8
|