-
1
-
-
16244399678
-
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)
-
Albuisson J, Pecheux C, Carel JC, Lacombe D, Leheup B, Lapuzina P, Bouchard P, Legius E, Matthijs G and Wasniewska M et al. (2005) Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). Hum Mutat 25,98-99.
-
(2005)
Hum Mutat
, vol.25
, pp. 98-99
-
-
Albuisson, J.1
Pecheux, C.2
Carel, J.C.3
Lacombe, D.4
Leheup, B.5
Lapuzina, P.6
Bouchard, P.7
Legius, E.8
Matthijs, G.9
Wasniewska, M.10
-
2
-
-
26244448074
-
The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism
-
Bhagavath B, Ozata M, Ozdemir IC, Bolu E, Bick DP, Sherins RJ and Layman LC (2005) The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism. Fertil Steril 84,951-957.
-
(2005)
Fertil Steril
, vol.84
, pp. 951-957
-
-
Bhagavath, B.1
Ozata, M.2
Ozdemir, I.C.3
Bolu, E.4
Bick, D.P.5
Sherins, R.J.6
Layman, L.C.7
-
3
-
-
32944478440
-
Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism
-
Bhagavath B, Podolsky RH, Ozata M, Bolu E, Bick DP, Kulharya A, Sherins RJ and Layman LC (2006) Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism. Fertil Steril 85,706-713.
-
(2006)
Fertil Steril
, vol.85
, pp. 706-713
-
-
Bhagavath, B.1
Podolsky, R.H.2
Ozata, M.3
Bolu, E.4
Bick, D.P.5
Kulharya, A.6
Sherins, R.J.7
Layman, L.C.8
-
4
-
-
0026642442
-
Brief report: Intragenic deletion of the KALIG-1 gene in Kallmann's syndrome
-
Bick D, Franco B, Sherins RJ, Heye B, Pike L, Crawford J, Maddalena A, Incerti B, Pragliola A and Meitinger T et al. (1992) Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. N Engl J Med 326,1752-1755.
-
(1992)
N Engl J Med
, vol.326
, pp. 1752-1755
-
-
Bick, D.1
Franco, B.2
Sherins, R.J.3
Heye, B.4
Pike, L.5
Crawford, J.6
Maddalena, A.7
Incerti, B.8
Pragliola, A.9
Meitinger, T.10
-
5
-
-
0027198564
-
Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus
-
Bouloux PM, Kirk J, Munroe P, Duke V, Meindl A, Hilson A, Grant D, Carter N, Betts D and Meitinger T et al. (1993) Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus. Clin Genet 43,169-173.
-
(1993)
Clin Genet
, vol.43
, pp. 169-173
-
-
Bouloux, P.M.1
Kirk, J.2
Munroe, P.3
Duke, V.4
Meindl, A.5
Hilson, A.6
Grant, D.7
Carter, N.8
Betts, D.9
Meitinger, T.10
-
6
-
-
0023934983
-
Gonadotropin therapy in men with isolated hypogonadotropic hypogonadism: The response to human chorionic gonadotropin is predicted by initial testicular size
-
Burris AS, Rodbard HW, Winters SJ and Sherins RJ (1988) Gonadotropin therapy in men with isolated hypogonadotropic hypogonadism: The response to human chorionic gonadotropin is predicted by initial testicular size. J Clin Endocrinol Metab 66,1144-1151.
-
(1988)
J Clin Endocrinol Metab
, vol.66
, pp. 1144-1151
-
-
Burris, A.S.1
Rodbard, H.W.2
Winters, S.J.3
Sherins, R.J.4
-
7
-
-
9444238033
-
The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons
-
Cariboni A, Pimpinelli F, Colamarino S, Zaninetti R, Piccolella M, Rumio C, Piva F, Rugarli EI and Maggi R (2004) The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. Hum Mol Genet 13,2781-2791.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2781-2791
-
-
Cariboni, A.1
Pimpinelli, F.2
Colamarino, S.3
Zaninetti, R.4
Piccolella, M.5
Rumio, C.6
Piva, F.7
Rugarli, E.I.8
Maggi, R.9
-
8
-
-
33644849965
-
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers
-
Chocholska S, Rossier E, Barbi G and Kehrer-Sawatzki H (2006) Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers. Am J Med Genet A 140,604-610.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 604-610
-
-
Chocholska, S.1
Rossier, E.2
Barbi, G.3
Kehrer-Sawatzki, H.4
-
9
-
-
20244366799
-
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
-
Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S and Baverel F et al. (2003) Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 33,463-465.
-
(2003)
Nat Genet
, vol.33
, pp. 463-465
-
-
Dode, C.1
Levilliers, J.2
Dupont, J.M.3
De Paepe, A.4
Le Du, N.5
Soussi-Yanicostas, N.6
Coimbra, R.S.7
Delmaghani, S.8
Compain-Nouaille, S.9
Baverel, F.10
-
10
-
-
0025938481
-
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
-
Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M and Taillon-Miller P et al. (1991) A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353,529-536.
-
(1991)
Nature
, vol.353
, pp. 529-536
-
-
Franco, B.1
Guioli, S.2
Pragliola, A.3
Incerti, B.4
Bardoni, B.5
Tonlorenzi, R.6
Carrozzo, R.7
Maestrini, E.8
Pieretti, M.9
Taillon-Miller, P.10
-
11
-
-
0031016660
-
Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency
-
Georgopoulos NA, Pralong FP, Seidman CE, Seidman JG, Crowley WF, Jr and Vallejo M (1997) Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. J Clin Endocrinol Metab 82,213-217.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 213-217
-
-
Georgopoulos, N.A.1
Pralong, F.P.2
Seidman, C.E.3
Seidman, J.G.4
Crowley Jr., W.F.5
Vallejo, M.6
-
12
-
-
9244247298
-
Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism
-
Gonzalez-Martinez D, Kim SH, Hu Y, Guimond S, Schofield J, Winyard P, Vannelli GB, Turnbull J and Bouloux PM (2004) Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism. J Neurosci 24,10384-10392.
-
(2004)
J Neurosci
, vol.24
, pp. 10384-10392
-
-
Gonzalez-Martinez, D.1
Kim, S.H.2
Hu, Y.3
Guimond, S.4
Schofield, J.5
Winyard, P.6
Vannelli, G.B.7
Turnbull, J.8
Bouloux, P.M.9
-
13
-
-
18844367672
-
A window of opportunity: The diagnosis of gonadotropin deficiency in the male infant
-
Grumbach MM (2005) A window of opportunity: The diagnosis of gonadotropin deficiency in the male infant. J Clin Endocrinol Metab 90, 3122-3127.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 3122-3127
-
-
Grumbach, M.M.1
-
14
-
-
0031737816
-
A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome
-
Gu WX, Colquhoun-Kerr JS, Kopp P, Bode HH and Jameson JL (1998) A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome. Mol Genet Metab 65,59-61.
-
(1998)
Mol Genet Metab
, vol.65
, pp. 59-61
-
-
Gu, W.X.1
Colquhoun-Kerr, J.S.2
Kopp, P.3
Bode, H.H.4
Jameson, J.L.5
-
15
-
-
0026701165
-
X chromosome-linked Kallmann syndrome: Stop mutations validate the candidate gene
-
Hardelin JP, Levilliers J, del Castillo I, Cohen-Salmon M, Legouis R, Blanchard S, Compain S, Bouloux P, Kirk J and Moraine C et al. (1992) X chromosome-linked Kallmann syndrome: Stop mutations validate the candidate gene. Proc Natl Acad Sci USA 89,8190-8194.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 8190-8194
-
-
Hardelin, J.P.1
Levilliers, J.2
del Castillo, I.3
Cohen-Salmon, M.4
Legouis, R.5
Blanchard, S.6
Compain, S.7
Bouloux, P.8
Kirk, J.9
Moraine, C.10
-
16
-
-
0027477310
-
Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome
-
Hardelin JP, Levilliers J, Blanchard S, Carel JC, Leutenegger M, Pinard-Bertelletto JP, Bouloux P and Petit C (1993) Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Hum Mol Genet 2,373-377.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 373-377
-
-
Hardelin, J.P.1
Levilliers, J.2
Blanchard, S.3
Carel, J.C.4
Leutenegger, M.5
Pinard-Bertelletto, J.P.6
Bouloux, P.7
Petit, C.8
-
17
-
-
9244231594
-
Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator
-
Hu Y, Gonzalez-Martinez D, Kim SH and Bouloux PM (2004) Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator. Biochem J 384,495-505.
-
(2004)
Biochem J
, vol.384
, pp. 495-505
-
-
Hu, Y.1
Gonzalez-Martinez, D.2
Kim, S.H.3
Bouloux, P.M.4
-
18
-
-
0034743714
-
Analysis of the KAL1 gene in 19 Japanese patients with Kallmann syndrome
-
Izumi Y, Tatsumi K, Okamoto S, Ogawa T, Hosokawa A, Matsuo T, Kato Y, Fukui H and Amino N (2001) Analysis of the KAL1 gene in 19 Japanese patients with Kallmann syndrome. Endocr J 48,143-149.
-
(2001)
Endocr J
, vol.48
, pp. 143-149
-
-
Izumi, Y.1
Tatsumi, K.2
Okamoto, S.3
Ogawa, T.4
Hosokawa, A.5
Matsuo, T.6
Kato, Y.7
Fukui, H.8
Amino, N.9
-
19
-
-
0033759845
-
A novel nonsense mutation of the KAL gene in two brothers with Kallmann syndrome
-
Jansen C, Hendriks-Stegeman BI and Jansen M (2000) A novel nonsense mutation of the KAL gene in two brothers with Kallmann syndrome. Horm Res 53,207-212.
-
(2000)
Horm Res
, vol.53
, pp. 207-212
-
-
Jansen, C.1
Hendriks-Stegeman, B.I.2
Jansen, M.3
-
20
-
-
0034661199
-
Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormone-releasing hormone (LHRH) neurons
-
Kramer PR and Wray S (2000) Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormone-releasing hormone (LHRH) neurons. Genes Dev 14,1824-1834.
-
(2000)
Genes Dev
, vol.14
, pp. 1824-1834
-
-
Kramer, P.R.1
Wray, S.2
-
21
-
-
0030744037
-
Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene
-
Layman LC, Lee EJ, Peak DB, Namnoum AB, Vu KV, van Lingen BL, Gray MR, McDonough PG, Reindollar RH and Jameson JL (1997) Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene. N Engl J Med 337,607-611.
-
(1997)
N Engl J Med
, vol.337
, pp. 607-611
-
-
Layman, L.C.1
Lee, E.J.2
Peak, D.B.3
Namnoum, A.B.4
Vu, K.V.5
van Lingen, B.L.6
Gray, M.R.7
McDonough, P.G.8
Reindollar, R.H.9
Jameson, J.L.10
-
22
-
-
17144439793
-
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism
-
Layman LC, Cohen DP, Jin M, Xie J, Li Z, Reindollar RH, Bolbolan S, Bick DP, Sherins RR and Duck LW et al. (1998) Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. Nat Genet 18,14-15.
-
(1998)
Nat Genet
, vol.18
, pp. 14-15
-
-
Layman, L.C.1
Cohen, D.P.2
Jin, M.3
Xie, J.4
Li, Z.5
Reindollar, R.H.6
Bolbolan, S.7
Bick, D.P.8
Sherins, R.R.9
Duck, L.W.10
-
23
-
-
0025940669
-
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
-
Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D and Caterina D et al. (1991) The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 67,423-435.
-
(1991)
Cell
, vol.67
, pp. 423-435
-
-
Legouis, R.1
Hardelin, J.P.2
Levilliers, J.3
Claverie, J.M.4
Compain, S.5
Wunderle, V.6
Millasseau, P.7
Le Paslier, D.8
Cohen, D.9
Caterina, D.10
-
24
-
-
0036549115
-
GnRH neuronal development: Insights into hypogonadotrophic hypogonadism
-
MacColl G, Quinton R and Bouloux PM (2002) GnRH neuronal development: insights into hypogonadotrophic hypogonadism. Trends Endocrinol Metab 13,112-118.
-
(2002)
Trends Endocrinol Metab
, vol.13
, pp. 112-118
-
-
MacColl, G.1
Quinton, R.2
Bouloux, P.M.3
-
25
-
-
0028890334
-
Hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis, and renal malformation syndrome
-
Martul P, Pineda J, Levilliers J, Vazquez JA, Rodriguez-Soriano J, Loridan L and Diaz-Perez JL (1995) Hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis, and renal malformation syndrome. Clin Endocrinol (Oxf) 42,121-128.
-
(1995)
Clin Endocrinol (Oxf)
, vol.42
, pp. 121-128
-
-
Martul, P.1
Pineda, J.2
Levilliers, J.3
Vazquez, J.A.4
Rodriguez-Soriano, J.5
Loridan, L.6
Diaz-Perez, J.L.7
-
26
-
-
0038707519
-
X chromosome-linked Kallmann syndrome: Clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene
-
Massin N, Pecheux C, Eloit C, Bensimon JL, Galey J, Kuttenn F, Hardelin JP, Dode C and Touraine P (2003) X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene. J Clin Endocrinol Metab 88,2003-2008.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 2003-2008
-
-
Massin, N.1
Pecheux, C.2
Eloit, C.3
Bensimon, J.L.4
Galey, J.5
Kuttenn, F.6
Hardelin, J.P.7
Dode, C.8
Touraine, P.9
-
27
-
-
0034500763
-
A novel mutation of the KAL1 gene in monozygotic twins with Kallmann syndrome
-
Matsuo T, Okamoto S, Izumi Y, Hosokawa A, Takegawa T, Fukui H, Tun Z, Honda K, Matoba R and Tatsumi K et al. (2000) A novel mutation of the KAL1 gene in monozygotic twins with Kallmann syndrome. Eur J Endocrinol 143,783-787.
-
(2000)
Eur J Endocrinol
, vol.143
, pp. 783-787
-
-
Matsuo, T.1
Okamoto, S.2
Izumi, Y.3
Hosokawa, A.4
Takegawa, T.5
Fukui, H.6
Tun, Z.7
Honda, K.8
Matoba, R.9
Tatsumi, K.10
-
28
-
-
0031596966
-
A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome
-
Maya-Nunez G, Zenteno JC, Ulloa-Aguirre A, Kofman-Alfaro S and Mendez JP (1998) A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome. J Clin Endocrinol Metab 83,1650-1653.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 1650-1653
-
-
Maya-Nunez, G.1
Zenteno, J.C.2
Ulloa-Aguirre, A.3
Kofman-Alfaro, S.4
Mendez, J.P.5
-
29
-
-
0033594383
-
Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene
-
Merke DP, Tajima T, Baron J and Cutler GB Jr (1999) Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene. N Engl J Med 340,1248-1252.
-
(1999)
N Engl J Med
, vol.340
, pp. 1248-1252
-
-
Merke, D.P.1
Tajima, T.2
Baron, J.3
Cutler Jr., G.B.4
-
30
-
-
3042795444
-
Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)
-
Miura K, Acierno JS Jr and Seminara SB (2004) Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). J Hum Genet 49,265-268.
-
(2004)
J Hum Genet
, vol.49
, pp. 265-268
-
-
Miura, K.1
Acierno Jr., J.S.2
Seminara, S.B.3
-
31
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
Ng PC and Henikoff S (2001) Predicting deleterious amino acid substitutions. Genome Res 11,863-874.
-
(2001)
Genome Res
, vol.11
, pp. 863-874
-
-
Ng, P.C.1
Henikoff, S.2
-
32
-
-
17344368672
-
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
-
Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM and Sheffield VC (1998) The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 19,140-147.
-
(1998)
Nat Genet
, vol.19
, pp. 140-147
-
-
Nishimura, D.Y.1
Swiderski, R.E.2
Alward, W.L.3
Searby, C.C.4
Patil, S.R.5
Bennet, S.R.6
Kanis, A.B.7
Gastier, J.M.8
Stone, E.M.9
Sheffield, V.C.10
-
33
-
-
0031626521
-
Familial Kallmann syndrome: A novel splice acceptor mutation in the KAL gene
-
O'Neill MJ, Tridjaja B, Smith MJ, Bell KM, Warne GL and Sinclair AH (1998) Familial Kallmann syndrome: A novel splice acceptor mutation in the KAL gene. Hum Mutat 11,340-342.
-
(1998)
Hum Mutat
, vol.11
, pp. 340-342
-
-
O'Neill, M.J.1
Tridjaja, B.2
Smith, M.J.3
Bell, K.M.4
Warne, G.L.5
Sinclair, A.H.6
-
34
-
-
17744373868
-
The importance of autosomal genes in Kallmann syndrome: Genotype-phenotype correlations and neuroendocrine characteristics
-
Oliveira LM, Seminara SB, Beranova M, Hayes FJ, Valkenburgh SB, Schipani E, Costa EM, Latronico AC, Crowley WF Jr and Vallejo M (2001) The importance of autosomal genes in Kallmann syndrome: Genotype-phenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab 86,1532-1538.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 1532-1538
-
-
Oliveira, L.M.1
Seminara, S.B.2
Beranova, M.3
Hayes, F.J.4
Valkenburgh, S.B.5
Schipani, E.6
Costa, E.M.7
Latronico, A.C.8
Crowley Jr., W.F.9
Vallejo, M.10
-
35
-
-
0029012955
-
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene
-
Parenti G, Rizzolo MG, Ghezzi M, Di Maio S, Sperandeo MP, Incerti B, Franco B, Ballabio A and Andria G (1995) Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. Am J Med Genet 57,476-478.
-
(1995)
Am J Med Genet
, vol.57
, pp. 476-478
-
-
Parenti, G.1
Rizzolo, M.G.2
Ghezzi, M.3
Di Maio, S.4
Sperandeo, M.P.5
Incerti, B.6
Franco, B.7
Ballabio, A.8
Andria, G.9
-
36
-
-
10744224197
-
Development of human protein reference database as an initial platform for approaching systems biology in humans
-
Peri S, Navarro JD, Amanchy R, Kristiansen TZ, Jonnalagadda CK, Surendranath V, Niranjan V, Muthusamy B, Gandhi TK and Gronborg M et al. (2003) Development of human protein reference database as an initial platform for approaching systems biology in humans. Genome Res 13,2363-2371.
-
(2003)
Genome Res
, vol.13
, pp. 2363-2371
-
-
Peri, S.1
Navarro, J.D.2
Amanchy, R.3
Kristiansen, T.Z.4
Jonnalagadda, C.K.5
Surendranath, V.6
Niranjan, V.7
Muthusamy, B.8
Gandhi, T.K.9
Gronborg, M.10
-
37
-
-
0032958354
-
Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature
-
Persson JW, Humphrey K, Watson C, Taylor P, Leigh D, McDonald B and Fraser IS (1999) Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature. Hum Reprod 14,1207-1212.
-
(1999)
Hum Reprod
, vol.14
, pp. 1207-1212
-
-
Persson, J.W.1
Humphrey, K.2
Watson, C.3
Taylor, P.4
Leigh, D.5
McDonald, B.6
Fraser, I.S.7
-
38
-
-
10144243975
-
The neuroradiology of Kallmann's syndrome: A genotypic and phenotypic analysis
-
Quinton R, Duke VM, de Zoysa PA, Platts AD, Valentine A, Kendall B, Pickman S, Kirk JM, Besser GM and Jacobs HS et al. (1996) The neuroradiology of Kallmann's syndrome: A genotypic and phenotypic analysis. J Clin Endocrinol Metab 81,3010-3017.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 3010-3017
-
-
Quinton, R.1
Duke, V.M.2
de Zoysa, P.A.3
Platts, A.D.4
Valentine, A.5
Kendall, B.6
Pickman, S.7
Kirk, J.M.8
Besser, G.M.9
Jacobs, H.S.10
-
39
-
-
23244452266
-
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1
-
Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lonnqvist KE, Holinski-Feder E, Sutter C, McKinnon W and Duraisamy S et al. (2005) Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 129,537-549.
-
(2005)
Gastroenterology
, vol.129
, pp. 537-549
-
-
Raevaara, T.E.1
Korhonen, M.K.2
Lohi, H.3
Hampel, H.4
Lynch, E.5
Lonnqvist, K.E.6
Holinski-Feder, E.7
Sutter, C.8
McKinnon, W.9
Duraisamy, S.10
-
40
-
-
0036336826
-
The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching
-
Rugarli EI, Di Schiavi E, Hilliard MA, Arbucci S, Ghezzi C, Facciolli A, Coppola G, Ballabio A and Bazzicalupo P (2002) The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching. Development 129,1283-1294.
-
(2002)
Development
, vol.129
, pp. 1283-1294
-
-
Rugarli, E.I.1
Di Schiavi, E.2
Hilliard, M.A.3
Arbucci, S.4
Ghezzi, C.5
Facciolli, A.6
Coppola, G.7
Ballabio, A.8
Bazzicalupo, P.9
-
41
-
-
12144288744
-
Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients
-
Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishiba Y and Yokozawa M et al. (2004) Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. J Clin Endocrinol Metab 89,1079-1088.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 1079-1088
-
-
Sato, N.1
Katsumata, N.2
Kagami, M.3
Hasegawa, T.4
Hori, N.5
Kawakita, S.6
Minowada, S.7
Shimotsuka, A.8
Shishiba, Y.9
Yokozawa, M.10
-
42
-
-
0000023099
-
Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes
-
Sheffield VC, Cox DR, Lerman LS and Myers RM (1989) Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci USA 86,232-236.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 232-236
-
-
Sheffield, V.C.1
Cox, D.R.2
Lerman, L.S.3
Myers, R.M.4
-
43
-
-
0036077552
-
Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome
-
Soderlund D, Canto P and Mendez JP (2002) Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. J Clin Endocrinol Metab 87,2589-2592.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 2589-2592
-
-
Soderlund, D.1
Canto, P.2
Mendez, J.P.3
-
44
-
-
0031787628
-
Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner
-
Soussi-Yanicostas N, Faivre-Sarrailh C, Hardelin JP, Levilliers J, Rougon G and Petit C (1998) Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner. J Cell Sci 111(Pt 19), 2953-2965.
-
(1998)
J Cell Sci
, vol.111
, Issue.PART 19
, pp. 2953-2965
-
-
Soussi-Yanicostas, N.1
Faivre-Sarrailh, C.2
Hardelin, J.P.3
Levilliers, J.4
Rougon, G.5
Petit, C.6
-
45
-
-
0037133961
-
Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons
-
Soussi-Yanicostas N, de Castro F, Julliard AK, Perfettini I, Chedotal A and Petit C (2002) Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons. Cell 109,217-228.
-
(2002)
Cell
, vol.109
, pp. 217-228
-
-
Soussi-Yanicostas, N.1
de Castro, F.2
Julliard, A.K.3
Perfettini, I.4
Chedotal, A.5
Petit, C.6
-
46
-
-
29644437762
-
Molecular analysis of KAL-1, GnRH-R, NELF and EBF2 genes in a series of Kallmann syndrome and normosmic hypogonadotropic hypogonadism patients
-
Trarbach EB, Baptista MT, Garmes HM and Hackel C (2005) Molecular analysis of KAL-1, GnRH-R, NELF and EBF2 genes in a series of Kallmann syndrome and normosmic hypogonadotropic hypogonadism patients. J Endocrinol 187,361-368.
-
(2005)
J Endocrinol
, vol.187
, pp. 361-368
-
-
Trarbach, E.B.1
Baptista, M.T.2
Garmes, H.M.3
Hackel, C.4
-
47
-
-
0031902705
-
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation
-
Weissortel R, Strom TM, Dorr HG, Rauch A and Meitinger T (1998) Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. Clin Genet 54,45-51.
-
(1998)
Clin Genet
, vol.54
, pp. 45-51
-
-
Weissortel, R.1
Strom, T.M.2
Dorr, H.G.3
Rauch, A.4
Meitinger, T.5
-
48
-
-
33745884140
-
Development of GnRH cells: Setting the stage for puberty
-
Whitlock KE, Illing N, Brideau NJ, Smith KM and Twomey S (2006) Development of GnRH cells: Setting the stage for puberty. Mol Cell Endocrinol 254-255, 39-50.
-
(2006)
Mol Cell Endocrinol
, vol.254-255
, pp. 39-50
-
-
Whitlock, K.E.1
Illing, N.2
Brideau, N.J.3
Smith, K.M.4
Twomey, S.5
-
49
-
-
0026729351
-
Chondrodysplasia punctata: A boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders
-
Wulfsberg EA, Curtis J and Jayne CH (1992) Chondrodysplasia punctata: A boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders. Am J Med Genet 43,823-828.
-
(1992)
Am J Med Genet
, vol.43
, pp. 823-828
-
-
Wulfsberg, E.A.1
Curtis, J.2
Jayne, C.H.3
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