메뉴 건너뛰기




Volumn 326, Issue 26, 1992, Pages 1752-1755

Intragenic Deletion of the KALIG-1 Gene in Kallmann's Syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ANOSMIA; ARTICLE; CHROMOSOME DELETION X; DNA SEQUENCE; GENE AMPLIFICATION; HUMAN; HYPOGONADISM; KALLMANN SYNDROME; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; SOUTHERN BLOTTING; X CHROMOSOME LINKED DISORDER;

EID: 0026642442     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM199206253262606     Document Type: Article
Times cited : (177)

References (37)
  • 2
    • 0015222095 scopus 로고
    • Effect of purified luteinizing hormone releasing factor of normal and hypogonadotropic anosmic men
    • Naftolin F, Harris GW, Bobrow M. Effect of purified luteinizing hormone releasing factor of normal and hypogonadotropic anosmic men. Nature 1971; 232: 496–7
    • (1971) Nature , vol.232 , pp. 496-497
    • Naftolin, F.1    Harris, G.W.2    Bobrow, M.3
  • 3
    • 70350573860 scopus 로고
    • Etudes sur les dysraphies crânioencéphaliques. 1. Agenesié des lobes olfactifs (télencephaloschizis latéral) et des commissures calleuse et antérieure (télencephaloschizis médian): la dysplasie olfacto-génitale
    • De Morsier G. Etudes sur les dysraphies crânioencéphaliques. 1. Agenesié des lobes olfactifs (télencephaloschizis latéral) et des commissures calleuse et antérieure (télencephaloschizis médian): la dysplasie olfacto-génitale. Schweiz Arch Neural Psychiatr 1954; 74: 309–61
    • (1954) Schweiz Arch Neural Psychiatr , vol.74 , pp. 309-361
    • De Morsier, G.1
  • 4
    • 0023202039 scopus 로고
    • Magnetic resonance imaging of the brain in patients with anosmia and hypothalamic hypogonadism (Kallmann's syndrome)
    • Klingmuller D, Dewes W, Krahe T, Brecht G, Schweikert H-U. Magnetic resonance imaging of the brain in patients with anosmia and hypothalamic hypogonadism (Kallmann's syndrome). J Clin Endocrinol Metab 1987; 65: 581–4
    • (1987) J Clin Endocrinol Metab , vol.65 , pp. 581-584
    • Klingmuller, D.1    Dewes, W.2    Krahe, T.3    Brecht, G.4    Schweikert, H.-U.5
  • 5
    • 0022624235 scopus 로고
    • A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C
    • Sunohara N, Sakuragawa N, Satoyoshi E, Tanae A, Shapiro LJ. A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C. Ann Neural 1986; 19: 174–81
    • (1986) Ann Neural , vol.19 , pp. 174-181
    • Sunohara, N.1    Sakuragawa, N.2    Satoyoshi, E.3    Tanae, A.4    Shapiro, L.J.5
  • 6
    • 0025340937 scopus 로고
    • Abnormalities in visual spacial attention in men with mirror movements associated with isolated hypogonadotropic hypogonadism
    • Kertzman C, Robinson DL, Sherins RJ, Schwankhaus JD, McClurkin JW. Abnormalities in visual spacial attention in men with mirror movements associated with isolated hypogonadotropic hypogonadism. Neurology 1990; 40: 1057–63
    • (1990) Neurology , vol.40 , pp. 1057-1063
    • Kertzman, C.1    Robinson, D.L.2    Sherins, R.J.3    Schwankhaus, J.D.4    McClurkin, J.W.5
  • 9
    • 0016740866 scopus 로고
    • Familial Kallmann syndrome with unilateral renal aplasia
    • Wegenke JD, Uehling DT, Wear JB Jr, et al. Familial Kallmann syndrome with unilateral renal aplasia. Clin Genet 1975; 7: 368–81
    • (1975) Clin Genet , vol.7 , pp. 368-381
    • Wegenke, J.D.1    Uehling, D.T.2    Wear, J.B.3
  • 10
    • 0020554722 scopus 로고
    • The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and review
    • White BJ, Rogol AD, Brown KS, Lieblich JM, Rosen SW. The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and review. Am J Med Genet 1983; 15: 417–35
    • (1983) Am J Med Genet , vol.15 , pp. 417-435
    • White, B.J.1    Rogol, A.D.2    Brown, K.S.3    Lieblich, J.M.4    Rosen, S.W.5
  • 11
    • 0026512044 scopus 로고
    • Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion
    • Bick DP, Schorderet DF, Price PA, et al. Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. Prenat Diagn 1992; 12: 19–29
    • (1992) Prenat Diagn , vol.12 , pp. 19-29
    • Bick, D.P.1    Schorderet, D.F.2    Price, P.A.3
  • 13
    • 0025083939 scopus 로고
    • Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232
    • Meitinger T, Heye B, Petit C, et al. Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232. Am J Hum Genet 1990; 47: 664–9
    • (1990) Am J Hum Genet , vol.47 , pp. 664-669
    • Meitinger, T.1    Heye, B.2    Petit, C.3
  • 14
    • 85023735408 scopus 로고
    • Erratum
    • Erratum, Am J Hum Genet 1990; 47: 883
    • (1990) Am J Hum Genet , vol.47 , pp. 883
  • 15
    • 0017278213 scopus 로고
    • Olfacto-genital dysplasia in the female
    • Jones JR, Kemmann E. Olfacto-genital dysplasia in the female. Obstet Gynecol Annu 1976; 5: 443–66
    • (1976) Obstet Gynecol Annu , vol.5 , pp. 443-466
    • Jones, J.R.1    Kemmann, E.2
  • 16
    • 0023009531 scopus 로고
    • Klinefelter's syndrome in Sardinia: clinical report of 265 hypogonadic males detected at the time of military check-up
    • Filippi G. Klinefelter's syndrome in Sardinia: clinical report of 265 hypogonadic males detected at the time of military check-up. Clin Genet 1986; 30: 276–84
    • (1986) Clin Genet , vol.30 , pp. 276-284
    • Filippi, G.1
  • 17
    • 0015540730 scopus 로고
    • Hypogonadotropic eunuchoidism. I. Clinical study of the mode of inheritance
    • Santen RJ, Paulsen CA. Hypogonadotropic eunuchoidism. I. Clinical study of the mode of inheritance. J Clin Endocrino! Metab 1973; 36: 47–54
    • (1973) J Clin Endocrino! Metab , vol.36 , pp. 47-54
    • Santen, R.J.1    Paulsen, C.A.2
  • 18
    • 0024554568 scopus 로고
    • Origin of luteinizing hormone-releasing hormone neurons
    • Schwanzel-Fukuda M, Pfaff DW. Origin of luteinizing hormone-releasing hormone neurons. Nature 1989; 338: 161–4
    • (1989) Nature , vol.338 , pp. 161-164
    • Schwanzel-Fukuda, M.1    Pfaff, D.W.2
  • 19
    • 0000678016 scopus 로고
    • Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode
    • Wray S, Grant P, Gainer H. Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode. Proc Natl Acad Sci U S A 1989; 86: 8132–6
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 8132-8136
    • Wray, S.1    Grant, P.2    Gainer, H.3
  • 20
    • 0024470630 scopus 로고
    • Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome
    • Schwanzel-Fukuda M, Bick D, Pfaff DW. Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. Brain Res Mol Brain Res 1989; 6: 311–26
    • (1989) Brain Res Mol Brain Res , vol.6 , pp. 311-326
    • Schwanzel-Fukuda, M.1    Bick, D.2    Pfaff, D.W.3
  • 21
    • 0022589841 scopus 로고
    • X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome
    • Ballabio A, Parenti G, Tippett P, et al. X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. Hum Genet 1986; 72: 237–40
    • (1986) Hum Genet , vol.72 , pp. 237-240
    • Ballabio, A.1    Parenti, G.2    Tippett, P.3
  • 22
    • 0024802646 scopus 로고
    • Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
    • Ballabio A, Bardoni B, Carrozzo R, et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci U S A 1989; 86: 10001–5
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 10001-10005
    • Ballabio, A.1    Bardoni, B.2    Carrozzo, R.3
  • 23
    • 0025938481 scopus 로고
    • A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
    • Franco B, Guioli S, Pragliola A, et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 1991; 353: 529–36
    • (1991) Nature , vol.353 , pp. 529-536
    • Franco, B.1    Guioli, S.2    Pragliola, A.3
  • 24
    • 0025940669 scopus 로고
    • The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
    • Legouis R, Hardelin J-P, Levilliers J, et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 1991; 67: 423–35
    • (1991) Cell , vol.67 , pp. 423-435
    • Legouis, R.1    Hardelin, J.-P.2    Levilliers, J.3
  • 25
    • 0003866568 scopus 로고
    • The Smell Identification Test administration manual
    • Haddonfield, N.J.: Sensonics
    • The Smell Identification Test administration manual. Haddonfield, N.J.: Sensonics, 1983
    • (1983)
  • 26
    • 0013963756 scopus 로고
    • Studies on olfactory thresholds in normal man and in patients with adrenal cortical insufficiency: the role of adrenal cortical steroids and of serum sodium concentration
    • Henkin RI, Bartter FC. Studies on olfactory thresholds in normal man and in patients with adrenal cortical insufficiency: the role of adrenal cortical steroids and of serum sodium concentration. J Clin Invest 1966; 45: 1631–9
    • (1966) J Clin Invest , vol.45 , pp. 1631-1639
    • Henkin, R.I.1    Bartter, F.C.2
  • 27
    • 0003903343 scopus 로고
    • Molecular cloning: a laboratory manual
    • 2nd ed. Cold Spring Harbor, N.Y.: Cold Spring Harbor Laboratory Press
    • Sambraok J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. 2nd ed. Cold Spring Harbor, N.Y.: Cold Spring Harbor Laboratory Press, 1989
    • (1989)
    • Sambraok, J.1    Fritsch, E.F.2    Maniatis, T.3
  • 28
    • 1842267323 scopus 로고
    • Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA
    • Gibbs RA, Nguyen P-N, McBride LJ, Koepf SM, Caskey CT. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A 1989; 86: 1919–23
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 1919-1923
    • Gibbs, R.A.1    Nguyen, P.-N.2    McBride, L.J.3    Koepf, S.M.4    Caskey, C.T.5
  • 29
    • 0025732653 scopus 로고
    • Nonhomologous recombination in the human genome: deletions in the human factor VIII gene
    • Woods-Samuels P, Kazazian HH Jr, Antonarakis SE. Nonhomologous recombination in the human genome: deletions in the human factor VIII gene. Genomics 1991; 10: 94–101
    • (1991) Genomics , vol.10 , pp. 94-101
    • Woods-Samuels, P.1    Kazazian, H.H.2    Antonarakis, S.E.3
  • 30
    • 85023661714 scopus 로고    scopus 로고
    • Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3bp of homology at deletion breakpoints
    • (in press)
    • Bernatowicz LF, Li XM, Carrozzo R, et al. Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3bp of homology at deletion breakpoints. Genomics (in press)
    • Genomics
    • Bernatowicz, L.F.1    Li, X.M.2    Carrozzo, R.3
  • 31
    • 0025369709 scopus 로고
    • Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus
    • Viskochil D, Buchberg AM, Xu G, et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990; 62: 187–92
    • (1990) Cell , vol.62 , pp. 187-192
    • Viskochil, D.1    Buchberg, A.M.2    Xu, G.3
  • 32
    • 0025297599 scopus 로고
    • Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients
    • Wallace MR, Marchuk DA, Andersen LB, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990; 249: 181–6
    • (1990) Science , vol.249 , pp. 181-186
    • Wallace, M.R.1    Marchuk, D.A.2    Andersen, L.B.3
  • 33
    • 34047243595 scopus 로고
    • Epilepsy and disorders of neuronal migration
    • Epilepsy and disorders of neuronal migration. Lancet 1990; 336: 1035
    • (1990) Lancet , vol.336 , pp. 1035
  • 34
    • 0023122493 scopus 로고
    • Disorders of neuronal migration
    • Barth PG. Disorders of neuronal migration. Can J Neurol Sci 1987; 14: 1–16
    • (1987) Can J Neurol Sci , vol.14 , pp. 1-16
    • Barth, P.G.1
  • 35
    • 1642441975 scopus 로고
    • Commitment and migration of young neurons in the vertebrate brain
    • Alvarez-Buylla A. Commitment and migration of young neurons in the vertebrate brain. Experientia 1990; 46: 879–82
    • (1990) Experientia , vol.46 , pp. 879-882
    • Alvarez-Buylla, A.1
  • 36
    • 0024513082 scopus 로고
    • The neurogenetics of lissencephaly
    • Dobyns WB. The neurogenetics of lissencephaly. Neurol Clin 1989; 7: 89–105
    • (1989) Neurol Clin , vol.7 , pp. 89-105
    • Dobyns, W.B.1
  • 37
    • 0026335617 scopus 로고
    • Migratory arrest of gonadotropin-releasing hormone neurons in transgenic mice
    • Radovick S, Wray S, Lee E, et al. Migratory arrest of gonadotropin-releasing hormone neurons in transgenic mice. Proc Natl Acad Sci U S A 1991; 88: 3402–6
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 3402-3406
    • Radovick, S.1    Wray, S.2    Lee, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.