-
1
-
-
84856575903
-
Clinical practice. Delayed puberty
-
Palmert MR, Dunkel L. Clinical practice. Delayed puberty. N Engl J Med. 2012;366:443-453.
-
(2012)
N Engl J Med.
, vol.366
, pp. 443-453
-
-
Palmert, M.R.1
Dunkel, L.2
-
2
-
-
77952981747
-
Deciphering genetic disease in the genomic era: The model of GnRH deficiency
-
Sykiotis GP, Pitteloud N, Seminara SB, Kaiser UB, Crowley WF Jr. Deciphering genetic disease in the genomic era: The model of GnRH deficiency. Sci Transl Med. 2010;2:32rv32.
-
(2010)
Sci Transl Med.
, vol.2
, pp. 32rv32
-
-
Sykiotis, G.P.1
Pitteloud, N.2
Seminara, S.B.3
Kaiser, U.B.4
Crowley, W.F.5
-
3
-
-
0036280914
-
Delayed puberty: Analysis of a large case series from an academic center
-
Sedlmeyer IL, Palmert MR. Delayed puberty: Analysis of a large case series from an academic center. J Clin Endocrinol Metab. 2002;87:1613-1620.
-
(2002)
J Clin Endocrinol Metab.
, vol.87
, pp. 1613-1620
-
-
Sedlmeyer, I.L.1
Palmert, M.R.2
-
4
-
-
0036925681
-
Pedigree analysis of constitutional delay of growth and maturation: Determination of familial aggregation and inheritance patterns
-
Sedlmeyer IL, Hirschhorn JN, Palmert MR. Pedigree analysis of constitutional delay of growth and maturation: Determination of familial aggregation and inheritance patterns. J Clin Endocrinol Metab. 2002;87:5581-5586.
-
(2002)
J Clin Endocrinol Metab.
, vol.87
, pp. 5581-5586
-
-
Sedlmeyer, I.L.1
Hirschhorn, J.N.2
Palmert, M.R.3
-
5
-
-
40849145458
-
Patterns of inheritance of constitutional delay of growth and puberty in families of adolescent girls and boys referred to specialist pediatric care
-
Wehkalampi K, Widén E, Laine T, Palotie A, Dunkel L. Patterns of inheritance of constitutional delay of growth and puberty in families of adolescent girls and boys referred to specialist pediatric care. J Clin Endocrinol Metab. 2008;93:723-728.
-
(2008)
J Clin Endocrinol Metab.
, vol.93
, pp. 723-728
-
-
Wehkalampi, K.1
Widén, E.2
Laine, T.3
Palotie, A.4
Dunkel, L.5
-
6
-
-
57349091752
-
Association of the timing of puberty with a chromosome 2 locus
-
Wehkalampi K, Widén E, Laine T, Palotie A, Dunkel L. Association of the timing of puberty with a chromosome 2 locus. J Clin Endocrinol Metab. 2008;93:4833-4839.
-
(2008)
J Clin Endocrinol Metab.
, vol.93
, pp. 4833-4839
-
-
Wehkalampi, K.1
Widén, E.2
Laine, T.3
Palotie, A.4
Dunkel, L.5
-
7
-
-
0029819642
-
The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human
-
Waldstreicher J, Seminara SB, Jameson JL, et al. The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. J Clin Endocrinol Metab. 1996;81:4388-4395.
-
(1996)
J Clin Endocrinol Metab.
, vol.81
, pp. 4388-4395
-
-
Waldstreicher, J.1
Seminara, S.B.2
Jameson, J.L.3
-
8
-
-
0024596375
-
Neurologic findings in men with isolated hypogonadotropic hypogonadism
-
Schwankhaus JD, Currie J, Jaffe MJ, Rose SR, Sherins RJ. Neurologic findings in men with isolated hypogonadotropic hypogonadism. Neurology. 1989;39:223-226.
-
(1989)
Neurology
, vol.39
, pp. 223-226
-
-
Schwankhaus, J.D.1
Currie, J.2
Jaffe, M.J.3
Rose, S.R.4
Sherins, R.J.5
-
9
-
-
0022453480
-
Markedly delayed puberty or Kallmann's syndrome variant
-
Bauman A. Markedly delayed puberty or Kallmann's syndrome variant. J Androl. 1986;7:224-227.
-
(1986)
J Androl
, vol.7
, pp. 224-227
-
-
Bauman, A.1
-
10
-
-
0024334379
-
Pulsatile gonadotropin secretion after discontinuation of long term gonadotropin-releasing hormone (GnRH) administration in a subset of GnRH-deficient men
-
Finkelstein JS, Spratt DI, O'Dea LS, et al. Pulsatile gonadotropin secretion after discontinuation of long term gonadotropin-releasing hormone (GnRH) administration in a subset of GnRH-deficient men. J Clin Endocrinol Metab. 1989;69:377-385.
-
(1989)
J Clin Endocrinol Metab.
, vol.69
, pp. 377-385
-
-
Finkelstein, J.S.1
Spratt, D.I.2
O'Dea, L.S.3
-
11
-
-
0032909090
-
Kallmann's syndrome: Is it always for life?
-
Quinton R, Cheow HK, Tymms DJ, Bouloux PM, Wu FC, Jacobs HS. Kallmann's syndrome: Is it always for life? Clin Endocrinol (Oxf). 1999;50:481-485.
-
(1999)
Clin Endocrinol (Oxf)
, vol.50
, pp. 481-485
-
-
Quinton, R.1
Cheow, H.K.2
Tymms, D.J.3
Bouloux, P.M.4
Wu, F.C.5
Jacobs, H.S.6
-
12
-
-
34548331152
-
Reversal of idiopathic hypogonadotropic hypogonadism
-
Raivio T, Falardeau J, Dwyer A, et al. Reversal of idiopathic hypogonadotropic hypogonadism. NEngl JMed. 2007;357:863-873.
-
(2007)
NEngl JMed.
, vol.357
, pp. 863-873
-
-
Raivio, T.1
Falardeau, J.2
Dwyer, A.3
-
13
-
-
77954517193
-
TAC3/TACR3mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood
-
Gianetti E, Tusset C, Noel SD, et al. TAC3/TACR3mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. J Clin Endocrinol Metab. 2010;95:2857-2867.
-
(2010)
J Clin Endocrinol Metab.
, vol.95
, pp. 2857-2867
-
-
Gianetti, E.1
Tusset, C.2
Noel, S.D.3
-
14
-
-
79960986103
-
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism
-
Tornberg J, Sykiotis GP, Keefe K, et al. Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. Proc Natl Acad Sci U S A. 2011;108:11524-11529.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 11524-11529
-
-
Tornberg, J.1
Sykiotis, G.P.2
Keefe, K.3
-
15
-
-
84895791491
-
Reversal and relapse of hypogonadotropic hypogonadism: Resilience and fragility of the reproductive neuroendocrine system
-
Sidhoum VF, Chan YM, Lippincott MF, et al. Reversal and relapse of hypogonadotropic hypogonadism: Resilience and fragility of the reproductive neuroendocrine system. J Clin Endocrinol Metab. 2014;99:861-870.
-
(2014)
J Clin Endocrinol Metab.
, vol.99
, pp. 861-870
-
-
Sidhoum, V.F.1
Chan, Y.M.2
Lippincott, M.F.3
-
16
-
-
84877260745
-
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism
-
Miraoui H, Dwyer AA, Sykiotis GP, et al. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet. 2013;92:725-743.
-
(2013)
Am J Hum Genet.
, vol.92
, pp. 725-743
-
-
Miraoui, H.1
Dwyer, A.A.2
Sykiotis, G.P.3
-
17
-
-
79959730664
-
The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty
-
Vaaralahti K, Wehkalampi K, Tommiska J, Laitinen EM, Dunkel L, Raivio T. The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty. Fertil Steril. 2011;95:2756-2758.
-
(2011)
Fertil Steril.
, vol.95
, pp. 2756-2758
-
-
Vaaralahti, K.1
Wehkalampi, K.2
Tommiska, J.3
Laitinen, E.M.4
Dunkel, L.5
Raivio, T.6
-
18
-
-
84872796582
-
Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders
-
Tusset C, Noel SD, Trarbach EB, et al. Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders. Arq Bras Endocrinol Metabol. 2012;56:646-652.
-
(2012)
Arq Bras Endocrinol Metabol.
, vol.56
, pp. 646-652
-
-
Tusset, C.1
Noel, S.D.2
Trarbach, E.B.3
-
19
-
-
84975795680
-
An integrated map of genetic variation from 1, 092 human genomes
-
Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1, 092 human genomes. Nature. 2012;491:56-65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
-
21
-
-
0037249501
-
PANTHER: A browsable database of gene products organized by biological function, using curated protein family and subfamily classification
-
Thomas PD, Kejariwal A, Campbell MJ, et al. PANTHER: A browsable database of gene products organized by biological function, using curated protein family and subfamily classification. Nucleic Acids Res. 2003;31:334-341.
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 334-341
-
-
Thomas, P.D.1
Kejariwal, A.2
Campbell, M.J.3
-
22
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
23
-
-
68149165614
-
Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4:1073-1081.
-
(2009)
Nat Protoc.
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
24
-
-
25144496606
-
PMUT: A web-based tool for the annotation of pathological mutations on proteins
-
Ferrer-Costa C, Gelpí JL, Zamakola L, Parraga I, de la Cruz X, Orozco M. PMUT: A web-based tool for the annotation of pathological mutations on proteins. Bioinformatics. 2005;21:3176-3178.
-
(2005)
Bioinformatics
, vol.21
, pp. 3176-3178
-
-
Ferrer-Costa, C.1
Gelpí, J.L.2
Zamakola, L.3
Parraga, I.4
De La Cruz, X.5
Orozco, M.6
-
25
-
-
77955151784
-
Mutation-Taster evaluates disease-causing potential of sequence alterations
-
Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. Mutation-Taster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575-576.
-
(2010)
Nat Methods
, vol.7
, pp. 575-576
-
-
Schwarz, J.M.1
Rödelsperger, C.2
Schuelke, M.3
Seelow, D.4
-
26
-
-
20044396569
-
Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: Investigation of role in pubertal timing
-
Sedlmeyer IL, Pearce CL, Trueman JA, et al. Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: Investigation of role in pubertal timing. J Clin Endocrinol Metab. 2005;90:1091-1099.
-
(2005)
J Clin Endocrinol Metab.
, vol.90
, pp. 1091-1099
-
-
Sedlmeyer, I.L.1
Pearce, C.L.2
Trueman, J.A.3
-
27
-
-
57349108889
-
Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche
-
Gajdos ZK, Butler JL, Henderson KD, et al. Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche. J Clin Endocrinol Metab. 2008;93:4290-4298.
-
(2008)
J Clin Endocrinol Metab.
, vol.93
, pp. 4290-4298
-
-
Gajdos, Z.K.1
Butler, J.L.2
Henderson, K.D.3
-
29
-
-
84908024873
-
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
-
Perry JR, Day F, Elks CE, et al. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature. 2014;514:92-97.
-
(2014)
Nature
, vol.514
, pp. 92-97
-
-
Perry, J.R.1
Day, F.2
Elks, C.E.3
-
30
-
-
0025274063
-
Patterns of pulsatile luteinizing hormone secretion before and during the onset of puberty in boys: A study using an immunoradiometric assay
-
Wu FC, Butler GE, Kelnar CJ, Sellar RE. Patterns of pulsatile luteinizing hormone secretion before and during the onset of puberty in boys: A study using an immunoradiometric assay. J Clin Endocrinol Metab. 1990;70:629-637.
-
(1990)
J Clin Endocrinol Metab.
, vol.70
, pp. 629-637
-
-
Wu, F.C.1
Butler, G.E.2
Kelnar, C.J.3
Sellar, R.E.4
-
31
-
-
34347373055
-
Progressive reduction of relative height in childhood predicts adult stature below target height in boys with constitutional delay of growth and puberty
-
Wehkalampi K, Vangonen K, Laine T, Dunkel L. Progressive reduction of relative height in childhood predicts adult stature below target height in boys with constitutional delay of growth and puberty. Horm Res. 2007;68:99-104.
-
(2007)
Horm Res
, vol.68
, pp. 99-104
-
-
Wehkalampi, K.1
Vangonen, K.2
Laine, T.3
Dunkel, L.4
-
32
-
-
2342633204
-
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
-
Gloyn AL, Pearson ER, Antcliff JF, et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med. 2004;350:1838-1849.
-
(2004)
N Engl J Med.
, vol.350
, pp. 1838-1849
-
-
Gloyn, A.L.1
Pearson, E.R.2
Antcliff, J.F.3
-
33
-
-
33745288813
-
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features
-
Gloyn AL, Diatloff-Zito C, Edghill EL, et al. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet. 2006;14:824-830.
-
(2006)
Eur J Hum Genet.
, vol.14
, pp. 824-830
-
-
Gloyn, A.L.1
Diatloff-Zito, C.2
Edghill, E.L.3
-
34
-
-
33847041796
-
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program
-
Florez JC, Jablonski KA, Kahn SE, et al. Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program. Diabetes. 2007;56:531-536.
-
(2007)
Diabetes
, vol.56
, pp. 531-536
-
-
Florez, J.C.1
Jablonski, K.A.2
Kahn, S.E.3
-
35
-
-
11844286928
-
Apolipoprotein E and familial dysbetalipoproteinemia: Clinical, biochemical, and genetic aspects
-
Smelt AH, de Beer F. Apolipoprotein E and familial dysbetalipoproteinemia: Clinical, biochemical, and genetic aspects. Semin Vasc Med. 2004;4:249-257.
-
(2004)
Semin Vasc Med.
, vol.4
, pp. 249-257
-
-
Smelt, A.H.1
De Beer, F.2
-
36
-
-
77950948152
-
Genetic variants associated with fasting blood lipids in the U. S. Population: Third National Health and Nutrition Examination Survey
-
Chang MH, Yesupriya A, Ned RM, Mueller PW, Dowling NF. Genetic variants associated with fasting blood lipids in the U. S. population: Third National Health and Nutrition Examination Survey. BMC Med Genet. 2010;11:62.
-
(2010)
BMC Med Genet.
, vol.11
, pp. 62
-
-
Chang, M.H.1
Yesupriya, A.2
Ned, R.M.3
Mueller, P.W.4
Dowling, N.F.5
-
37
-
-
78751621790
-
Agenetic basis for functional hypothalamic amenorrhea
-
Caronia LM, Martin C, Welt CK, et al. Agenetic basis for functional hypothalamic amenorrhea. N Engl J Med. 2011;364:215-225.
-
(2011)
N Engl J Med.
, vol.364
, pp. 215-225
-
-
Caronia, L.M.1
Martin, C.2
Welt, C.K.3
-
38
-
-
70449103248
-
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism
-
Raivio T, Sidis Y, Plummer L, et al. Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2009;94:4380-4390.
-
(2009)
J Clin Endocrinol Metab.
, vol.94
, pp. 4380-4390
-
-
Raivio, T.1
Sidis, Y.2
Plummer, L.3
-
39
-
-
33646567190
-
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
-
Pitteloud N, Acierno JS Jr, Meysing A, et al. Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A. 2006;103:6281-6286.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 6281-6286
-
-
Pitteloud, N.1
Acierno, J.S.2
Meysing, A.3
-
40
-
-
33745948557
-
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes
-
Pitteloud N, Meysing A, Quinton R, et al. Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Mol Cell Endocrinol 2006;254-255:60-69.
-
(2006)
Mol Cell Endocrinol
, vol.254-255
, pp. 60-69
-
-
Pitteloud, N.1
Meysing, A.2
Quinton, R.3
-
41
-
-
17744373868
-
The importance of autosomal genes in Kallmann syndrome: Genotype-phenotype correlations and neuroendocrine characteristics
-
Oliveira LM, Seminara SB, Beranova M, et al. The importance of autosomal genes in Kallmann syndrome: Genotype-phenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab. 2001;86:1532-1538.
-
(2001)
J Clin Endocrinol Metab.
, vol.86
, pp. 1532-1538
-
-
Oliveira, L.M.1
Seminara, S.B.2
Beranova, M.3
-
42
-
-
51649125515
-
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: Molecular genetics and clinical spectrum
-
Cole LW, Sidis Y, Zhang C, et al. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: Molecular genetics and clinical spectrum. J Clin Endocrinol Metab. 2008;93:3551-3559.
-
(2008)
J Clin Endocrinol Metab.
, vol.93
, pp. 3551-3559
-
-
Cole, L.W.1
Sidis, Y.2
Zhang, C.3
-
43
-
-
84866435612
-
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism
-
Gürbüz F, Kotan LD, Mengen E, et al. Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. J Clin Res Pediatr Endocrinol. 2012;4:121-126.
-
(2012)
J Clin Res Pediatr Endocrinol.
, vol.4
, pp. 121-126
-
-
Gürbüz, F.1
Kotan, L.D.2
Mengen, E.3
|