메뉴 건너뛰기




Volumn , Issue , 2007, Pages 259-280

Short stature syndromes

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84994238438     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter
Times cited : (3)

References (152)
  • 1
    • 0021931293 scopus 로고
    • Clinical longitudinal standards for height and height velocity for North American children
    • Tanner JM, Davies PS. Clinical longitudinal standards for height and height velocity for North American children. J Pediatr 1985; 107: 317–29.
    • (1985) J Pediatr , vol.107 , pp. 317-329
    • Tanner, J.M.1    Davies, P.S.2
  • 2
    • 0017261757 scopus 로고
    • Clinical longitudinal standards for height, weight, height velocity, weight velocity, and stages of puberty
    • Tanner JM, Whitehouse RH. Clinical longitudinal standards for height, weight, height velocity, weight velocity, and stages of puberty. Arch Dis Child 1976; 51: 170–9.
    • (1976) Arch Dis Child , vol.51 , pp. 170-179
    • Tanner, J.M.1    Whitehouse, R.H.2
  • 3
    • 0029000469 scopus 로고
    • Cross sectional stature and weight reference curves for the UK, 1990
    • Freeman JV, Cole TJ, Chinn S, et al. Cross sectional stature and weight reference curves for the UK, 1990. Arch Dis Child 1995; 73: 17–24.
    • (1995) Arch Dis Child , vol.73 , pp. 17-24
    • Freeman, J.V.1    Cole, T.J.2    Chinn, S.3
  • 5
    • 0025811014 scopus 로고
    • Down syndrome – an update and review for the primary pediatrician
    • Cooley WC, Graham JM. Down syndrome – an update and review for the primary pediatrician. Clin Pediatr 1991; 30: 233–53.
    • (1991) Clin Pediatr , vol.30 , pp. 233-253
    • Cooley, W.C.1    Graham, J.M.2
  • 6
    • 0025618176 scopus 로고
    • Neonatal growth patterns in a population of consecutively born Down syndrome children
    • Clementi M, Calzolari E, Turolla L, et al. Neonatal growth patterns in a population of consecutively born Down syndrome children. Am J Med Genet 1990; 7(Suppl): 71–4.
    • (1990) Am J Med Genet , vol.7 , pp. 71-74
    • Clementi, M.1    Calzolari, E.2    Turolla, L.3
  • 7
    • 0023833932 scopus 로고
    • Growth charts for children with Down syndrome: 1 month to 18 years of age
    • Cronk C, Crocker AC, Pueschel SM, et al. Growth charts for children with Down syndrome: 1 month to 18 years of age. Pediatrics 1988; 81: 102–10.
    • (1988) Pediatrics , vol.81 , pp. 102-110
    • Cronk, C.1    Crocker, A.C.2    Pueschel, S.M.3
  • 9
    • 0027955660 scopus 로고
    • Carey JC. Natural history of trisomy 18 and trisomy 13: Growth, physical assessment, medical histories, survival, and recurrence risk
    • Baty BJ, Blackburn BL, Carey JC. Natural history of trisomy 18 and trisomy 13: Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet 1994; 49: 175–88.
    • (1994) Am J Med Genet , vol.49 , pp. 175-188
    • Baty, B.J.1    Blackburn, B.L.2
  • 10
    • 3242732679 scopus 로고    scopus 로고
    • Down syndrome and other autosomal trisomies
    • Rimoin DL, Connor JM, Pyeritz RE, Korf BR, London: Churchill Livingstone
    • Tolmie JL. Down syndrome and other autosomal trisomies. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR (eds). Emery and Rimoin’s Principles and Practice of Medical Genetics. London: Churchill Livingstone, 2002: 1129–83.
    • (2002) Emery and Rimoin’s Principles and Practice of Medical Genetics , pp. 1129-1183
    • Tolmie, J.L.1
  • 11
    • 33646207667 scopus 로고    scopus 로고
    • Sex chromosome abnormalities
    • Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds., London: Churchill Livingstone
    • Allanson JE, Graham GE. Sex chromosome abnormalities. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. Emery and Rimoin’s Principles and Practice of Medical Genetics. London: Churchill Livingstone, 2002: 1184–201.
    • (2002) Emery and Rimoin’s Principles and Practice of Medical Genetics , pp. 1184-1201
    • Allanson, J.E.1    Graham, G.E.2
  • 12
    • 0008674411 scopus 로고    scopus 로고
    • Turner syndrome
    • Cassidy SB, Allanson JE, eds., New York: Wiley- Liss
    • Sybert VP. Turner syndrome. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. New York: Wiley- Liss, 2001: 459–84.
    • (2001) Management of Genetic Syndromes , pp. 459-484
    • Sybert, V.P.1
  • 14
    • 0037373130 scopus 로고    scopus 로고
    • Mapping the Wolf–Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
    • Zollino M, Lecce R, Fischetto R, et al. Mapping the Wolf–Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet 2003; 72: 590–7.
    • (2003) Am J Hum Genet , vol.72 , pp. 590-597
    • Zollino, M.1    Lecce, R.2    Fischetto, R.3
  • 15
    • 0034684044 scopus 로고    scopus 로고
    • Genotype–phenotype correlations and clinical diagnostic criteria in Wolf–Hirschhorn syndrome
    • Zollino M, Di Stefano C, Zampino G, et al. Genotype–phenotype correlations and clinical diagnostic criteria in Wolf–Hirschhorn syndrome. Am J Med Genet 2000; 94: 254–61.
    • (2000) Am J Med Genet , vol.94 , pp. 254-261
    • Zollino, M.1    Di Stefano, C.2    Zampino, G.3
  • 16
    • 0033949022 scopus 로고    scopus 로고
    • Effect of the size of the deletion and clinical manifestations in Hirschhorn syndrome: Analysis of 13 patients with a de novo deletion
    • Wieczorek D, Krause M, Majewski F, et al. Effect of the size of the deletion and clinical manifestations in Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. Eur J Hum Genet 2000; 8: 519–26.
    • (2000) Eur J Hum Genet , vol.8 , pp. 519-526
    • Wieczorek, D.1    Krause, M.2    Majewski, F.3
  • 17
    • 4444242261 scopus 로고    scopus 로고
    • Mild Wolf–Hirschhorn syndrome: Micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype–phenotype map
    • Van Buggenhout G, Melotte C, Dutta B, et al. Mild Wolf–Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype–phenotype map. J Med Genet 2004; 41: 691–8.
    • (2004) J Med Genet , vol.41 , pp. 691-698
    • Van Buggenhout, G.1    Melotte, C.2    Dutta, B.3
  • 18
    • 0344406970 scopus 로고    scopus 로고
    • Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome
    • Zhang A, Zheng C, Hou M, et al. Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome. Am J Hum Genet 2003; 72: 940–8.
    • (2003) Am J Hum Genet , vol.72 , pp. 940-948
    • Zhang, A.1    Zheng, C.2    Hou, M.3
  • 19
    • 0035078603 scopus 로고    scopus 로고
    • Clinical and molecular characterization of 80 patients with 5p deletion: Genotype–phenotype correlation
    • Mainardi PC, Perfumo C, Cali A, et al. Clinical and molecular characterization of 80 patients with 5p deletion: genotype–phenotype correlation. J Med Genet 2001; 38: 151–8.
    • (2001) J Med Genet , vol.38 , pp. 151-158
    • Mainardi, P.C.1    Perfumo, C.2    Cali, A.3
  • 20
    • 0033836157 scopus 로고    scopus 로고
    • Growth charts for cri-du-chat syndrome: An international collaborative study
    • Marinescu RC, Mainardi PC, Collins MR, et al. Growth charts for cri-du-chat syndrome: an international collaborative study. Am J Med Genet 2000; 94: 153–62.
    • (2000) Am J Med Genet , vol.94 , pp. 153-162
    • Marinescu, R.C.1    Mainardi, P.C.2    Collins, M.R.3
  • 21
    • 0036134782 scopus 로고    scopus 로고
    • Third case of WAGR syndrome with severe obesity and constitutional deletion of chromosome (11)(p12p14)
    • Gul D, Ogur G, Tunca Y, Ozcan O. Third case of WAGR syndrome with severe obesity and constitutional deletion of chromosome (11)(p12p14). Am J Med Genet 2002; 107: 70–1.
    • (2002) Am J Med Genet , vol.107 , pp. 70-71
    • Gul, D.1    Ogur, G.2    Tunca, Y.3    Ozcan, O.4
  • 22
    • 33747219342 scopus 로고    scopus 로고
    • Deletions and other structural abnormalities of the autosomes
    • Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds., London: Churchill Livingstone
    • Spinner NB, Emanuel BS. Deletions and other structural abnormalities of the autosomes. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. Emery and Rimoin’s Principles and Practice of Medical Genetics. London: Churchill Livingstone, 2002: 1202–36.
    • (2002) Emery and Rimoin’s Principles and Practice of Medical Genetics , pp. 1202-1236
    • Spinner, N.B.1    Emanuel, B.S.2
  • 23
    • 0042053458 scopus 로고    scopus 로고
    • Prader–Willi syndrome
    • Cassidy SB, Allanson JE, eds., New York: Wiley-Liss
    • Cassidy SB. Prader–Willi syndrome. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. New York: Wiley-Liss, 2001: 301–22.
    • (2001) Management of Genetic Syndromes , pp. 301-322
    • Cassidy, S.B.1
  • 24
    • 4644324006 scopus 로고    scopus 로고
    • A comprehensive team approach to the management of patients with Prader–Willi syndrome
    • Eiholzer U, Whitman BY. A comprehensive team approach to the management of patients with Prader–Willi syndrome. J Pediatr Endocrinol Metab 2004: 17: 1153–75.
    • (2004) J Pediatr Endocrinol Metab , vol.17 , pp. 1153-1175
    • Eiholzer, U.1    Whitman, B.Y.2
  • 25
    • 4644245259 scopus 로고    scopus 로고
    • Growth hormone therapy for Prader–Willi syndrome: A critical appraisal
    • Allen DB, Carrel AL. Growth hormone therapy for Prader–Willi syndrome: a critical appraisal. J Pediatr Endocrinol Metab 2004: 17(Suppl 4): 1297–306.
    • (2004) J Pediatr Endocrinol Metab , vol.17 , pp. 1297-1306
    • Allen, D.B.1    Carrel, A.L.2
  • 26
    • 2942581169 scopus 로고    scopus 로고
    • Growth hormone deficiency and related disorders: Insights into causation, diagnosis, and treatment
    • Dattani M, Preece M. Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment. Lancet 2004: 363: 1977–87.
    • (2004) Lancet , vol.363 , pp. 1977-1987
    • Dattani, M.1    Preece, M.2
  • 27
    • 0035201913 scopus 로고    scopus 로고
    • The diagnosis of skeletal dysplasias: A multidisciplinary approach
    • Mortier GR. The diagnosis of skeletal dysplasias: a multidisciplinary approach. Eur J Radiol 2001: 40: 161–7.
    • (2001) Eur J Radiol , vol.40 , pp. 161-167
    • Mortier, G.R.1
  • 29
    • 0021018431 scopus 로고
    • The Aarskog syndrome in a large family suggestive for autosomal dominant inheritance
    • van de Vooren MJ, Niermeijer MF, Hoogeboom JM. The Aarskog syndrome in a large family suggestive for autosomal dominant inheritance. Clin Genet 1983: 24: 439–45.
    • (1983) Clin Genet , vol.24 , pp. 439-445
    • Van De Vooren, M.J.1    Niermeijer, M.F.2    Hoogeboom, J.M.3
  • 30
    • 0028126564 scopus 로고
    • Isolation and characterization of the faciogenital dysplasia (Aarskog–Scott syndrome) gene: A putative Rho/Rac guanine nucleotide exchange factor
    • Pasteris NG, Cadle A, Logie LJ, et al. Isolation and characterization of the faciogenital dysplasia (Aarskog–Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell 1994: 79: 669–78.
    • (1994) Cell , vol.79 , pp. 669-678
    • Pasteris, N.G.1    Cadle, A.2    Logie, L.J.3
  • 31
    • 85057706308 scopus 로고
    • Aarskog syndrome
    • Donnai D, Winter RM, eds., London: Chapman & Hall Medical
    • Porteous MEM, Goudie DR. Aarskog syndrome. In: Donnai D, Winter RM, eds. Congenital Malformation Syndromes. London: Chapman & Hall Medical, 1995: 106–11.
    • (1995) Congenital Malformation Syndromes , pp. 106-111
    • Porteous, M.1    Goudie, D.R.2
  • 32
    • 0842323930 scopus 로고    scopus 로고
    • Phenotypic and molecular characterization of the Aarskog–Scott syndrome: A survey of the clinical variability in light of FGD1 mutation analysis in 46 patients
    • Orrico A, Galli L, Cavaliere ML, et al. Phenotypic and molecular characterization of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. Eur J Hum Genet 2004; 12: 16–23.
    • (2004) Eur J Hum Genet , vol.12 , pp. 16-23
    • Orrico, A.1    Galli, L.2    Cavaliere, M.L.3
  • 33
    • 0034425405 scopus 로고    scopus 로고
    • Autosomal recessive Robinow syndrome is allelic to dominant brachydactyly type B and caused by loss of function mutations in ROR2
    • Afzal AR, Rajab A, Fenske C, et al. Autosomal recessive Robinow syndrome is allelic to dominant brachydactyly type B and caused by loss of function mutations in ROR2. Nat Genet 2000; 25: 419–22.
    • (2000) Nat Genet , vol.25 , pp. 419-422
    • Afzal, A.R.1    Rajab, A.2    Fenske, C.3
  • 34
    • 0034426036 scopus 로고    scopus 로고
    • Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
    • van Bokhoven H, Celli J, Kayserili H, et al. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet 2000; 25: 423–6.
    • (2000) Nat Genet , vol.25 , pp. 423-426
    • Van Bokhoven, H.1    Celli, J.2    Kayserili, H.3
  • 36
    • 0025195106 scopus 로고
    • Mutations of the Gs _-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis
    • Weinstein LS, Gejman PV, Friedman E, et al. Mutations of the Gs _-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 1990; 87: 8287–90.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 8287-8290
    • Weinstein, L.S.1    Gejman, P.V.2    Friedman, E.3
  • 37
    • 1542358991 scopus 로고    scopus 로고
    • Inherited diseases involving G proteins and G protein-coupled receptors
    • Spiegel AM, Weinstein LS. Inherited diseases involving G proteins and G protein-coupled receptors. Annu Rev Med 2004; 55: 27–39.
    • (2004) Annu Rev Med , vol.55 , pp. 27-39
    • Spiegel, A.M.1    Weinstein, L.S.2
  • 38
    • 0027210606 scopus 로고
    • Heterogeneous mutations in the gene encoding the _-subunit of the stimulatory G protein of adenyl cyclase in Albright hereditary osteodystrophy
    • Miric A, Vechio JD, Levine MA. Heterogeneous mutations in the gene encoding the _-subunit of the stimulatory G protein of adenyl cyclase in Albright hereditary osteodystrophy. J Clin Endocrinol Metab USA 1993; 76: 1560–8.
    • (1993) J Clin Endocrinol Metab USA , vol.76 , pp. 1560-1568
    • Miric, A.1    Vechio, J.D.2    Levine, M.A.3
  • 39
    • 0035982094 scopus 로고    scopus 로고
    • Paternal imprinting of G_s in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a
    • Germain-Lee EL, Ding C-L, Deng Z, et al. Paternal imprinting of G_s in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem Biophys Res Commun 2002; 296: 67–72.
    • (2002) Biochem Biophys Res Commun , vol.296 , pp. 67-72
    • Germain-Lee, E.L.1    Ding, C.-L.2    Deng, Z.3
  • 40
    • 9444254176 scopus 로고    scopus 로고
    • Minireview: GNAS: Normal and abnormal functions
    • Weinstein LS, Liu J, Sakamoto A, et al. Minireview: GNAS: normal and abnormal functions. Endocrinology 2004; 145: 5459–64.
    • (2004) Endocrinology , vol.145 , pp. 5459-5464
    • Weinstein, L.S.1    Liu, J.2    Sakamoto, A.3
  • 41
    • 0020061545 scopus 로고
    • Albright hereditary osteodystrophy. A review
    • Fitch N. Albright hereditary osteodystrophy. A review. Am J Med Genet 1982; 11: 11–29.
    • (1982) Am J Med Genet , vol.11 , pp. 11-29
    • Fitch, N.1
  • 42
    • 0028813978 scopus 로고
    • Brachydactyly and mental retardation: An Albright hereditary osteodystrophy-like syndrome localized to 2q37
    • Wilson LC, Leverton K, Oude Luttikhuis ME, et al. Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet 1995; 56: 400–7.
    • (1995) Am J Hum Genet , vol.56 , pp. 400-407
    • Wilson, L.C.1    Leverton, K.2    Oude Luttikhuis, M.E.3
  • 43
    • 0031057954 scopus 로고    scopus 로고
    • Normal erythrocyte membrane Gs-alpha bioactivity in two unrelated patients with acrodysostosis
    • Wilson LC, Oude Luttikhuis ME, Baraitser M, et al. Normal erythrocyte membrane Gs-alpha bioactivity in two unrelated patients with acrodysostosis. J Med Genet 1997; 34: 133–6.
    • (1997) J Med Genet , vol.34 , pp. 133-136
    • Wilson, L.C.1    Oude Luttikhuis, M.E.2    Baraitser, M.3
  • 44
    • 0035141410 scopus 로고    scopus 로고
    • Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism
    • Graham JM, Krakow D, Tolo VT, et al. Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. Pediatr Radiol 2001; 31: 2–9.
    • (2001) Pediatr Radiol , vol.31 , pp. 2-9
    • Graham, J.M.1    Krakow, D.2    Tolo, V.T.3
  • 45
    • 0028785586 scopus 로고
    • The Bloom syndrome gene product is homologous to RecQ helicases
    • Ellis NA, Groden J, Ye TZ, et al. The Bloom syndrome gene product is homologous to RecQ helicases. Cell 1995; 83: 655–66.
    • (1995) Cell , vol.83 , pp. 655-666
    • Ellis, N.A.1    Groden, J.2    Ye, T.Z.3
  • 46
    • 0027331383 scopus 로고
    • Bloom syndrome: A Mendelian prototype of somatic mutational disease
    • German J. Bloom syndrome: a Mendelian prototype of somatic mutational disease. Medicine 1993; 72: 393–406.
    • (1993) Medicine , vol.72 , pp. 393-406
    • German, J.1
  • 47
    • 0031052108 scopus 로고    scopus 로고
    • Bloom syndrome: The first 100 cancers gene
    • German J. Bloom syndrome: the first 100 cancers gene. Cancer Genet Cytogenet 1997; 93: 100–6.
    • (1997) Cancer Genet Cytogenet , vol.93 , pp. 100-106
    • German, J.1
  • 48
    • 0037364415 scopus 로고    scopus 로고
    • RecQ helicases: Caretakers of the genome
    • Hickson ID. RecQ helicases: caretakers of the genome. Nat Rev Cancer 2003; 3: 169–78.
    • (2003) Nat Rev Cancer , vol.3 , pp. 169-178
    • Hickson, I.D.1
  • 49
    • 0346351375 scopus 로고
    • A manyfold increase in sister chromatid exchanges in Bloom syndrome lymphocytes
    • Chaganti RS, Schonberg S, German J. A manyfold increase in sister chromatid exchanges in Bloom syndrome lymphocytes. Proc Natl Acad Sci USA 1974; 71: 4508–12.
    • (1974) Proc Natl Acad Sci USA , vol.71 , pp. 4508-4512
    • Chaganti, R.S.1    Schonberg, S.2    German, J.3
  • 51
    • 12144288675 scopus 로고    scopus 로고
    • Heterogeneity in Fanconi anemia: Evidence for 2 new genetic subtypes
    • Levitus M, Rooimans MA, Steltenpool J, et al. Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes. Blood 2004; 103: 2498–503.
    • (2004) Blood , vol.103 , pp. 2498-2503
    • Levitus, M.1    Rooimans, M.A.2    Steltenpool, J.3
  • 52
    • 17744365737 scopus 로고    scopus 로고
    • Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry
    • Wajnrajch MP, Gertner JM, Huma Z, et al. Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry. Pediatrics 2001; 107: 744–54.
    • (2001) Pediatrics , vol.107 , pp. 744-754
    • Wajnrajch, M.P.1    Gertner, J.M.2    Huma, Z.3
  • 53
    • 0028068579 scopus 로고
    • Hematologic abnormalities in Fanconi anemia: An International Fanconi Anemia Registry study
    • Butturini A, Gale RP, Verlander PC, et al. Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study. Blood 1994; 84: 1650–5.
    • (1994) Blood , vol.84 , pp. 1650-1655
    • Butturini, A.1    Gale, R.P.2    Verlander, P.C.3
  • 54
    • 0037439356 scopus 로고    scopus 로고
    • Cancer in Fanconi anemia, 1927–2001
    • Alter BP. Cancer in Fanconi anemia, 1927–2001. Cancer 2003; 97: 425–40.
    • (2003) Cancer , vol.97 , pp. 425-440
    • Alter, B.P.1
  • 55
    • 2642542322 scopus 로고    scopus 로고
    • Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
    • Krantz ID, McCallum J, DeScipio C, et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 2004; 36: 631–5.
    • (2004) Nat Genet , vol.36 , pp. 631-635
    • Krantz, I.D.1    McCallum, J.2    Descipio, C.3
  • 56
    • 2642565901 scopus 로고    scopus 로고
    • NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
    • Tonkin ET, Wang TJ, Lisgo S, et al. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 2004; 36: 636–41.
    • (2004) Nat Genet , vol.36 , pp. 636-641
    • Tonkin, E.T.1    Wang, T.J.2    Lisgo, S.3
  • 57
    • 33646379870 scopus 로고    scopus 로고
    • X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
    • Musio A, Selicorni A, Focarelli ML, et al. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 2006; 38: 528–30.
    • (2006) Nat Genet , vol.38 , pp. 528-530
    • Musio, A.1    Selicorni, A.2    Focarelli, M.L.3
  • 58
    • 33847196427 scopus 로고    scopus 로고
    • Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation
    • Deardorff MA, Kaur M, Yaeger D, et al. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 2007; 80: 485–94.
    • (2007) Am J Hum Genet , vol.80 , pp. 485-494
    • Deardorff, M.A.1    Kaur, M.2    Yaeger, D.3
  • 59
    • 0027429307 scopus 로고
    • Koch S. De Lange syndrome: A clinical review of 310 individuals
    • Jackson L, Kline AD, Barr MA, Koch S. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 1993; 47: 940–6.
    • (1993) Am J Med Genet , vol.47 , pp. 940-946
    • Jackson, L.1    Kline, A.D.2    Barr, M.A.3
  • 60
    • 0027423908 scopus 로고
    • Brachmann–de Lange syndrome. Delineation of the clinical phenotype
    • Ireland M, Donnai D, Burn J. Brachmann–de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet 1993; 47: 959–64.
    • (1993) Am J Med Genet , vol.47 , pp. 959-964
    • Ireland, M.1    Donnai, D.2    Burn, J.3
  • 61
    • 0027435933 scopus 로고
    • Metacarpophalangeal pattern profile analysis in Brachmann–de Lange syndrome
    • Butler MG, Dahir GA, Gale DD, Meaney FJ. Metacarpophalangeal pattern profile analysis in Brachmann–de Lange syndrome. Am J Med Genet 1993; 47: 1003–5.
    • (1993) Am J Med Genet , vol.47 , pp. 1003-1005
    • Butler, M.G.1    Dahir, G.A.2    Gale, D.D.3    Meaney, F.J.4
  • 62
    • 0027366922 scopus 로고
    • Growth manifestations in the Brachmann–de Lange syndrome
    • Kline AD, Barr M, Jackson LG. Growth manifestations in the Brachmann–de Lange syndrome. Am J Med Genet 1993; 47: 1042–9.
    • (1993) Am J Med Genet , vol.47 , pp. 1042-1049
    • Kline, A.D.1    Barr, M.2    Jackson, L.G.3
  • 63
    • 0027503882 scopus 로고
    • Developmental data on individuals with the Brachmann–de Lange syndrome
    • Kline AD, Stanley C, Belevich J, et al. Developmental data on individuals with the Brachmann–de Lange syndrome. Am J Med Genet 1993; 47: 1053–8.
    • (1993) Am J Med Genet , vol.47 , pp. 1053-1058
    • Kline, A.D.1    Stanley, C.2    Belevich, J.3
  • 64
    • 0028158546 scopus 로고
    • Partial trisomy 3q causing mild Cornelia de Lange phenotype
    • Holder SE, Grimsley LM, Palmer RW, et al. Partial trisomy 3q causing mild Cornelia de Lange phenotype. J Med Genet 1994; 31: 150–2.
    • (1994) J Med Genet , vol.31 , pp. 150-152
    • Holder, S.E.1    Grimsley, L.M.2    Palmer, R.W.3
  • 65
    • 0033853562 scopus 로고    scopus 로고
    • Autozygosity mapping of a Seckel syndrome locus to chromosome 3q22.1-q24
    • Goodship J, Gill H, Carter J, et al. Autozygosity mapping of a Seckel syndrome locus to chromosome 3q22.1-q24. Am J Hum Genet 2000; 67: 498–503.
    • (2000) Am J Hum Genet , vol.67 , pp. 498-503
    • Goodship, J.1    Gill, H.2    Carter, J.3
  • 66
    • 0034750010 scopus 로고    scopus 로고
    • A new locus for Seckel syndrome on chromosome 18p11.31-q11.2
    • Børglum AD, Balslev T, Haagerup A, et al. A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. Eur J Hum Genet 2001; 9: 753–57.
    • (2001) Eur J Hum Genet , vol.9 , pp. 753-757
    • Børglum, A.D.1    Balslev, T.2    Haagerup, A.3
  • 67
    • 0242441476 scopus 로고    scopus 로고
    • Is the novel SCKL3 at 14q23 the predominant Seckel locus
    • Kilinç MO, Ninis VN, Ugur SA, et al. Is the novel SCKL3 at 14q23 the predominant Seckel locus. Eur J Hum Genet 2003; 11: 851–57.
    • (2003) Eur J Hum Genet , vol.11 , pp. 851-857
    • Kilinç, M.O.1    Ninis, V.N.2    Ugur, S.A.3
  • 68
    • 0345073699 scopus 로고    scopus 로고
    • A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
    • O’Driscoll M, Ruiz-Perez VL, Woods CG, et al. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat Genet 2003; 33: 497–501.
    • (2003) Nat Genet , vol.33 , pp. 497-501
    • O’Driscoll, M.1    Ruiz-Perez, V.L.2    Woods, C.G.3
  • 69
    • 4544333154 scopus 로고    scopus 로고
    • Chromosomal instability at common fragile sites in Seckel syndrome
    • Casper AM, Durkin SG, Arlt MF, Glover TW. Chromosomal instability at common fragile sites in Seckel syndrome. Am J Hum Genet 2004; 75: 654–60.
    • (2004) Am J Hum Genet , vol.75 , pp. 654-660
    • Casper, A.M.1    Durkin, S.G.2    Arlt, M.F.3    Glover, T.W.4
  • 71
    • 4344631651 scopus 로고    scopus 로고
    • Majewski osteodysplastic primordial dwarfism type II: Natural history and clinical findings
    • Hall JG, Flora C, Scott CI, et al. Majewski osteodysplastic primordial dwarfism type II: natural history and clinical findings. Am J Med Genet 2004; 130A: 55–72.
    • (2004) Am J Med Genet , vol.130A , pp. 55-72
    • Hall, J.G.1    Flora, C.2    Scott, C.I.3
  • 72
    • 0005922586 scopus 로고
    • Dubowitz syndrome
    • Donnai D, Winter RM, eds., London: Chapman & Hall Medical
    • Winter RM. Dubowitz syndrome. In: Donnai D, Winter RM, eds. Congenital Malformation Syndromes. London: Chapman & Hall Medical, 1995: 133–6.
    • (1995) Congenital Malformation Syndromes , pp. 133-136
    • Winter, R.M.1
  • 73
    • 0029997428 scopus 로고    scopus 로고
    • Dubowitz syndrome: Review of 141 cases including 36 previously unreported patients
    • Tsukahara M, Opitz JM. Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. Am J Med Genet 1996; 63: 277–89.
    • (1996) Am J Med Genet , vol.63 , pp. 277-289
    • Tsukahara, M.1    Opitz, J.M.2
  • 74
    • 0028938884 scopus 로고
    • Dubowitz syndrome: Long-term follow-up of an original patient
    • Hansen KE, Kirkpatrick SJ, Laxova R. Dubowitz syndrome: long-term follow-up of an original patient. Am J Med Genet 1995; 55: 161–4.
    • (1995) Am J Med Genet , vol.55 , pp. 161-164
    • Hansen, K.E.1    Kirkpatrick, S.J.2    Laxova, R.3
  • 75
    • 0032758850 scopus 로고    scopus 로고
    • The spectrum of Silver–Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria
    • Price SM, Stanhope R, Garrett C, et al. The spectrum of Silver–Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999; 36: 837–42.
    • (1999) J Med Genet , vol.36 , pp. 837-842
    • Price, S.M.1    Stanhope, R.2    Garrett, C.3
  • 76
    • 0028827636 scopus 로고
    • Growth and symptoms in Silver–Russell syndrome: Review on the basis of 386 patients
    • Wollmann HA, Kirchner T, Enders H, et al. Growth and symptoms in Silver–Russell syndrome: review on the basis of 386 patients. Eur J Pediatr 1995; 154: 958–68.
    • (1995) Eur J Pediatr , vol.154 , pp. 958-968
    • Wollmann, H.A.1    Kirchner, T.2    Enders, H.3
  • 77
    • 0022243350 scopus 로고
    • Pepin MG. Reevaluation of Russell–Silver syndrome
    • Saal HM, Pagon RA, Pepin MG. Reevaluation of Russell–Silver syndrome. J Pediatr 1985; 107: 733–7.
    • (1985) J Pediatr , vol.107 , pp. 733-737
    • Saal, H.M.1    Pagon, R.A.2
  • 78
    • 0028004480 scopus 로고
    • Cognitive abilities associated with the Silver–Russell syndrome
    • Lai KY, Skuse D, Stanhope R, Hindmarsh P. Cognitive abilities associated with the Silver–Russell syndrome. Arch Dis Child 1994; 71: 490–6.
    • (1994) Arch Dis Child , vol.71 , pp. 490-496
    • Lai, K.Y.1    Skuse, D.2    Stanhope, R.3    Hindmarsh, P.4
  • 79
    • 0037110930 scopus 로고    scopus 로고
    • Gastrointestinal complications of Russell–Silver syndrome: A pilot study
    • Anderson J, Viskochil D, O’Gorman M, Gonzales C. Gastrointestinal complications of Russell–Silver syndrome: a pilot study. Am J Med Genet 2002; 113: 15–9.
    • (2002) Am J Med Genet , vol.113 , pp. 15-19
    • Anderson, J.1    Viskochil, D.2    O’Gorman, M.3    Gonzales, C.4
  • 80
    • 0035662379 scopus 로고    scopus 로고
    • Silver–Russell syndrome: A dissection of the genetic aetiology and candidate chromosomal regions
    • Hitchins MP, Stanier P, Preece MA, Moore GE. Silver–Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. J Med Genet 2001; 38: 810–9.
    • (2001) J Med Genet , vol.38 , pp. 810-819
    • Hitchins, M.P.1    Stanier, P.2    Preece, M.A.3    Moore, G.E.4
  • 81
    • 0034113750 scopus 로고    scopus 로고
    • Maternal uniparental disomy 7 – review and further delineation of the phenotype
    • Kotzot D, Balmer D, Baumer A, et al. Maternal uniparental disomy 7 – review and further delineation of the phenotype. Eur J Pediatr 2000; 159: 247–56.
    • (2000) Eur J Pediatr , vol.159 , pp. 247-256
    • Kotzot, D.1    Balmer, D.2    Baumer, A.3
  • 82
    • 0037816227 scopus 로고    scopus 로고
    • Disruption of the imprinted Grb10 gene leads to disproportionate overgrowth by an Igf2-independent mechanism
    • Charalambous M, Smith FM, Bennett WR, et al. Disruption of the imprinted Grb10 gene leads to disproportionate overgrowth by an Igf2-independent mechanism. Proc Natl Acad Sci USA 2003; 100: 8292–7.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 8292-8297
    • Charalambous, M.1    Smith, F.M.2    Bennett, W.R.3
  • 83
    • 0027321271 scopus 로고
    • Second observation of Silver–Russell syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25
    • Midro AT, Debek K, Sawicka A, et al. Second observation of Silver–Russell syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25. Clin Genet 1993; 44: 53–5.
    • (1993) Clin Genet , vol.44 , pp. 53-55
    • Midro, A.T.1    Debek, K.2    Sawicka, A.3
  • 84
    • 0017799416 scopus 로고
    • Phenotypic and genetic analysis of the Silver–Russell syndrome
    • Escobar V, Gleiser S, Weaver DD. Phenotypic and genetic analysis of the Silver–Russell syndrome. Clin Genet 1978; 13: 278–88.
    • (1978) Clin Genet , vol.13 , pp. 278-288
    • Escobar, V.1    Gleiser, S.2    Weaver, D.D.3
  • 85
    • 0025060730 scopus 로고
    • Threegeneration dominant transmission of the Silver–Russell syndrome
    • Duncan PA, Hall JG, Shapiro LR, Vibert BK. Threegeneration dominant transmission of the Silver–Russell syndrome. Am J Med Genet 1990; 35: 245–50.
    • (1990) Am J Med Genet , vol.35 , pp. 245-250
    • Duncan, P.A.1    Hall, J.G.2    Shapiro, L.R.3    Vibert, B.K.4
  • 86
    • 0023616124 scopus 로고
    • Further delineation of the 3-M syndrome with review of the literature
    • Hennekam RC, Bijlsma JB, Spranger J. Further delineation of the 3-M syndrome with review of the literature. Am J Med Genet 1987; 28: 195–209.
    • (1987) Am J Med Genet , vol.28 , pp. 195-209
    • Hennekam, R.C.1    Bijlsma, J.B.2    Spranger, J.3
  • 88
    • 0034786224 scopus 로고    scopus 로고
    • Brunner HG, van der Burgt I. 3-M syndrome: Description of six new patients with review of the literature
    • van der Wal G, Otten BJ, Brunner HG, van der Burgt I. 3-M syndrome: description of six new patients with review of the literature. Clin Dysmorphol 2001; 10: 241–52.
    • (2001) Clin Dysmorphol , vol.10 , pp. 241-252
    • Van Der Wal, G.1    Otten, B.J.2
  • 89
    • 1842865320 scopus 로고    scopus 로고
    • Spectrum of dolichospondylic dysplasia: Two new patients with distinctive findings
    • Elliott AM, Graham JM, Curry CJ, et al. Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings. Am J Med Genet 2002; 113: 351–61.
    • (2002) Am J Med Genet , vol.113 , pp. 351-361
    • Elliott, A.M.1    Graham, J.M.2    Curry, C.J.3
  • 90
    • 0015700213 scopus 로고
    • Case report 1
    • Bergsma D, ed., New York: White Plains, National Foundation – March of Dimes
    • Pelletier G, Feingold M. Case report 1. In: Bergsma D, ed. Syndrome Identification, Vol 1. New York: White Plains, National Foundation – March of Dimes, 1973: 8–9.
    • (1973) Syndrome Identification , vol.1 , pp. 8-9
    • Pelletier, G.1    Feingold, M.2
  • 91
    • 0001346188 scopus 로고
    • Case report 2
    • Bergsma D, ed., New York: White Plains, National Foundation – March of Dimes
    • Leisti J, Hollister DW, Rimoin DL. Case report 2. In: Bergsma D, ed. Syndrome Identification, Vol 2. New York: White Plains, National Foundation – March of Dimes, 1974: 305.
    • (1974) Syndrome Identification , vol.2 , pp. 305
    • Leisti, J.1    Hollister, D.W.2    Rimoin, D.L.3
  • 93
    • 0035889285 scopus 로고    scopus 로고
    • Floating–Harbor syndrome in two unrelated girls: Mild short stature in one patient and effective growth hormone therapy in the other
    • Wieczorek D, Wüsthof A, Harms E, Meinecke P. Floating–Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. Am J Med Genet 2001; 104: 47–52.
    • (2001) Am J Med Genet , vol.104 , pp. 47-52
    • Wieczorek, D.1    Wüsthof, A.2    Harms, E.3    Meinecke, P.4
  • 95
    • 4744373557 scopus 로고    scopus 로고
    • The first Finnish patient with the Floating–Harbor syndrome: Follow-up of eight years
    • Ala-Mello S, Peippo M. The first Finnish patient with the Floating–Harbor syndrome: follow-up of eight years. Am J Med Genet 2004; 130A: 317–9.
    • (2004) Am J Med Genet , vol.130A , pp. 317-319
    • Ala-Mello, S.1    Peippo, M.2
  • 96
    • 0015845730 scopus 로고
    • Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction
    • Perheentupa J, Autio S, Leisti S, et al. Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. Lancet 1973; 2: 351–5.
    • (1973) Lancet , vol.2 , pp. 351-355
    • Perheentupa, J.1    Autio, S.2    Leisti, S.3
  • 98
    • 0033918327 scopus 로고    scopus 로고
    • Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism
    • Avela K, Lipsanen-Nyman M, Idänheimo N, et al. Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. Nat Genet 2000; 25: 298–301.
    • (2000) Nat Genet , vol.25 , pp. 298-301
    • Avela, K.1    Lipsanen-Nyman, M.2    Idänheimo, N.3
  • 99
    • 4444335392 scopus 로고    scopus 로고
    • Novel mutations in the TRIM37 gene in mulibrey nanism
    • Hamalainen RH, Avela K, Lambert JA, et al. Novel mutations in the TRIM37 gene in mulibrey nanism. Hum Mutat 2004; 23: 522.
    • (2004) Hum Mutat , vol.23 , pp. 522
    • Hamalainen, R.H.1    Avela, K.2    Lambert, J.A.3
  • 100
    • 0036235857 scopus 로고    scopus 로고
    • The TRIM37 gene encodes a peroxisomal RING-B-Box- Coiled-Coil protein: Classification of mulibrey nanism as a new peroxisomal disorder
    • Kallijärvi J, Avela K, Lipsanen-Nyman M, et al. The TRIM37 gene encodes a peroxisomal RING-B-Box- Coiled-Coil protein: classification of mulibrey nanism as a new peroxisomal disorder. Am J Hum Genet 2002; 70: 1215–28.
    • (2002) Am J Hum Genet , vol.70 , pp. 1215-1228
    • Kallijärvi, J.1    Avela, K.2    Lipsanen-Nyman, M.3
  • 101
    • 0016000977 scopus 로고
    • Mulibrey nanism: An inherited dysmorphic syndrome with characteristic ocular findings
    • Raitta C, Perheentupa J. Mulibrey nanism: an inherited dysmorphic syndrome with characteristic ocular findings. Acta Ophthalmol Suppl 1974; 123: 162–71.
    • (1974) Acta Ophthalmol Suppl , vol.123 , pp. 162-171
    • Raitta, C.1    Perheentupa, J.2
  • 103
    • 0031918025 scopus 로고    scopus 로고
    • SHORT syndrome: Distinctive radiographic features
    • Haan E, Morris L. SHORT syndrome: distinctive radiographic features. Clin Dysmorphol 1998; 7: 103–7.
    • (1998) Clin Dysmorphol , vol.7 , pp. 103-107
    • Haan, E.1    Morris, L.2
  • 104
    • 85057657776 scopus 로고
    • Wiedemann-Rautenstrauch syndrome
    • Donnai D, Winter RM, eds., London: Chapman & Hall Medical
    • Toriello HV. Wiedemann-Rautenstrauch syndrome. In: Donnai D, Winter RM, eds. Congenital Malformation Syndromes. London: Chapman & Hall Medical, 1995: 137–40.
    • (1995) Congenital Malformation Syndromes , pp. 137-140
    • Toriello, H.V.1
  • 105
    • 0034677203 scopus 로고    scopus 로고
    • Neonatal progeroid (Wiedemann–Rautenstrauch) syndrome: Report of five new cases and review
    • Pivnick EK, Angle B, Kaufman RA, et al. Neonatal progeroid (Wiedemann–Rautenstrauch) syndrome: report of five new cases and review. Am J Med Genet 2000; 90: 131–40.
    • (2000) Am J Med Genet , vol.90 , pp. 131-140
    • Pivnick, E.K.1    Angle, B.2    Kaufman, R.A.3
  • 106
    • 18344385476 scopus 로고    scopus 로고
    • Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP- 2, cause Noonan syndrome
    • Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP- 2, cause Noonan syndrome. Nat Genet 2001; 29: 465–8.
    • (2001) Nat Genet , vol.29 , pp. 465-468
    • Tartaglia, M.1    Mehler, E.L.2    Goldberg, R.3
  • 107
    • 33845900943 scopus 로고    scopus 로고
    • Germline gain-offunction mutations in SOS1 cause Noonan syndrome
    • Roberts AE, Araki T, Swanson KD, et al. Germline gain-offunction mutations in SOS1 cause Noonan syndrome. Nat Genet 2007; 39: 70–4.
    • (2007) Nat Genet , vol.39 , pp. 70-74
    • Roberts, A.E.1    Araki, T.2    Swanson, K.D.3
  • 109
    • 0010536809 scopus 로고    scopus 로고
    • Noonan syndrome
    • Cassidy SB, Allanson JE, eds., New York: Wiley-Liss
    • Allanson JE. Noonan syndrome. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. New York: Wiley-Liss, 2001: 253–68.
    • (2001) Management of Genetic Syndromes , pp. 253-268
    • Allanson, J.E.1
  • 110
    • 0142170025 scopus 로고    scopus 로고
    • Adult height in Noonan syndrome
    • Noonan JA, Raaijmakers R, Hall BD. Adult height in Noonan syndrome. Am J Med Genet 2003; 123: 68–71.
    • (2003) Am J Med Genet , vol.123 , pp. 68-71
    • Noonan, J.A.1    Raaijmakers, R.2
  • 112
    • 0035021887 scopus 로고    scopus 로고
    • Short stature in Noonan syndrome: Response to growth hormone therapy
    • Kirk JM, Betts PR, Butler GE, et al. Short stature in Noonan syndrome: response to growth hormone therapy. Arch Dis Child 2001; 84: 440–3.
    • (2001) Arch Dis Child , vol.84 , pp. 440-443
    • Kirk, J.M.1    Betts, P.R.2    Butler, G.E.3
  • 113
    • 0034881311 scopus 로고    scopus 로고
    • Growth hormone treatment in children with Noonan syndrome: Four year results of a partially controlled trial
    • Noordam C, van der Burgt I, Sengers RC, et al. Growth hormone treatment in children with Noonan syndrome: four year results of a partially controlled trial. Acta Paediatr 2001; 90: 889–94.
    • (2001) Acta Paediatr , vol.90 , pp. 889-894
    • Noordam, C.1    Van Der Burgt, I.2    Sengers, R.C.3
  • 114
    • 0033505453 scopus 로고    scopus 로고
    • Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression
    • van der Burgt I, Thoonen G, Roosenboom N, et al. Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression. J Pediatr 1999; 135: 707–13.
    • (1999) J Pediatr , vol.135 , pp. 707-713
    • Van Der Burgt, I.1    Thoonen, G.2    Roosenboom, N.3
  • 115
    • 18844449616 scopus 로고    scopus 로고
    • PTPN11 mutations in patients with LEOPARD syndrome: French multicentric experience
    • Keren B, Hadchouel A, Saba S, et al. PTPN11 mutations in patients with LEOPARD syndrome: French multicentric experience. J Med Genet 2004; 41: e117.
    • (2004) J Med Genet , vol.e117 , pp. 41
    • Keren, B.1    Hadchouel, A.2    Saba, S.3
  • 116
    • 33749003166 scopus 로고    scopus 로고
    • Noonan syndrome and related disorders: Dysregulated RAS-mitogen activated protein kihase signal transduction
    • Gelb BD, Tartaglia M. Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kihase signal transduction. Human Molec Genet 2006; 15: R220–6.
    • (2006) Human Molec Genet , vol.15 , pp. R220-R226
    • Gelb, B.D.1    Tartaglia, M.2
  • 117
    • 0018348787 scopus 로고
    • Choanal atresia and associated multiple anomalies
    • Hall BD. Choanal atresia and associated multiple anomalies. J Pediatr 1979; 95: 395–8.
    • (1979) J Pediatr , vol.95 , pp. 395-398
    • Hall, B.D.1
  • 118
    • 0018350904 scopus 로고
    • Colobomatous microphthalmia, heart disease, hearing loss and mental retardation: A syndrome
    • Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ. Colobomatous microphthalmia, heart disease, hearing loss and mental retardation: a syndrome. J Pediatr Ophthalmol Strabismus 1979; 16: 122–8.
    • (1979) J Pediatr Ophthalmol Strabismus , vol.16 , pp. 122-128
    • Hittner, H.M.1    Hirsch, N.J.2    Kreh, G.M.3    Rudolph, A.J.4
  • 119
    • 0035281525 scopus 로고    scopus 로고
    • Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome
    • Amiel J, Attie-Bitach T, Marianowski R, et al. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am J Med Genet 2001; 99: 124–7.
    • (2001) Am J Med Genet , vol.99 , pp. 124-127
    • Amiel, J.1    Attie-Bitach, T.2    Marianowski, R.3
  • 120
    • 0035281648 scopus 로고    scopus 로고
    • Editorial comment: A recognizable syndrome within CHARGE association: Hall–Hittner syndrome
    • Graham JM Jr. Editorial comment: A recognizable syndrome within CHARGE association: Hall–Hittner syndrome. Am J Med Genet 2001; 99: 120–3.
    • (2001) Am J Med Genet , vol.99 , pp. 120-123
    • Graham, J.M.1
  • 121
    • 85057672694 scopus 로고    scopus 로고
    • CHARGE association
    • Cassidy SB, Allanson JE, eds., New York: Wiley-Liss
    • Oley CA. CHARGE association. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. New York: Wiley-Liss, 2001: 71–84.
    • (2001) Management of Genetic Syndromes , pp. 71-84
    • Oley, C.A.1
  • 122
  • 123
    • 4444239112 scopus 로고    scopus 로고
    • Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
    • Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nature Genet 2004; 36: 955–7.
    • (2004) Nature Genet , vol.36 , pp. 955-957
    • Vissers, L.E.1    Van Ravenswaaij, C.M.2    Admiraal, R.3
  • 125
    • 0016809496 scopus 로고
    • The KBG syndrome – a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies
    • Herrmann J, Pallister PD, Tiddy W, et al. The KBG syndrome – a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. BDOAS 1975; 11: 7–18.
    • (1975) BDOAS , vol.11 , pp. 7-18
    • Herrmann, J.1    Pallister, P.D.2    Tiddy, W.3
  • 126
    • 0035292724 scopus 로고    scopus 로고
    • The KBG syndrome, characteristic dental findings: A case report
    • Dowling PA, Fleming P, Gorlin RJ, et al. The KBG syndrome, characteristic dental findings: a case report. Int J Paediatr Dent 2001; 11: 131–4.
    • (2001) Int J Paediatr Dent , vol.11 , pp. 131-134
    • Dowling, P.A.1    Fleming, P.2    Gorlin, R.J.3
  • 127
    • 4744348389 scopus 로고    scopus 로고
    • The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype
    • Tekin M, Kavaz A, Berberoglu M, et al. The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. Am J Med Genet 2004; 130A: 284–7.
    • (2004) Am J Med Genet , vol.130A , pp. 284-287
    • Tekin, M.1    Kavaz, A.2    Berberoglu, M.3
  • 128
    • 20244366825 scopus 로고    scopus 로고
    • Diagnostic analysis of the Rubinstein–Taybi syndrome: Five cosmids should be used for microdeletion detection and low number of protein truncating mutations
    • Petrij F, Dauwerse HG, Blough RI, et al. Diagnostic analysis of the Rubinstein–Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet 2000; 37: 168–76.
    • (2000) J Med Genet , vol.37 , pp. 168-176
    • Petrij, F.1    Dauwerse, H.G.2    Blough, R.I.3
  • 129
    • 0029022770 scopus 로고
    • Rubinstein–Taybi syndrome caused by mutations in the transcriptional co-activator CBP
    • Petrij F, Giles RH, Dauwerse HG, et al. Rubinstein–Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 1995; 376: 348–51.
    • (1995) Nature , vol.376 , pp. 348-351
    • Petrij, F.1    Giles, R.H.2    Dauwerse, H.G.3
  • 130
    • 0027415763 scopus 로고
    • Microcephaly in Rubinstein–Taybi syndrome
    • Allanson JE. Microcephaly in Rubinstein–Taybi syndrome. Am J Med Genet 1993; 46: 244–6.
    • (1993) Am J Med Genet , vol.46 , pp. 244-246
    • Allanson, J.E.1
  • 132
    • 0028810450 scopus 로고
    • Cardiac abnormalities in the Rubinstein–Taybi syndrome
    • Stevens C, Bhakta M. Cardiac abnormalities in the Rubinstein–Taybi syndrome. Am J Med Genet 1995; 59d: 346–8.
    • (1995) Am J Med Genet , vol.59d , pp. 346-348
    • Stevens, C.1    Bhakta, M.2
  • 133
    • 0025045983 scopus 로고
    • Broad thumb-hallux (Rubinstein–Taybi) syndrome 1957–1988
    • Rubinstein J. Broad thumb-hallux (Rubinstein–Taybi) syndrome 1957–1988. Am J Med Genet 1990; 37(Suppl 6): 3–16.
    • (1990) Am J Med Genet , vol.37 , pp. 3-16
    • Rubinstein, J.1
  • 135
    • 0025022134 scopus 로고
    • Rubinstein–Taybi syndrome: A natural history study
    • Stevens CA, Carey JC, Blackburn BL. Rubinstein–Taybi syndrome: a natural history study. Am J Med Genet 1990; 37(Suppl 6): 30–7.
    • (1990) Am J Med Genet , vol.37 , pp. 30-37
    • Stevens, C.A.1    Carey, J.C.2    Blackburn, B.L.3
  • 136
    • 0041821535 scopus 로고    scopus 로고
    • Rubinstein–Taybi syndrome medical guidelines
    • Wiley S, Swayne S, Rubinstein JH, et al. Rubinstein–Taybi syndrome medical guidelines. Am J Med Genet 2003; 119A: 101–10.
    • (2003) Am J Med Genet , vol.119A , pp. 101-110
    • Wiley, S.1    Swayne, S.2    Rubinstein, J.H.3
  • 137
    • 0019837311 scopus 로고
    • A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip and skeletal anomalies associated with postnatal dwarfism and mental retardation
    • Kuroki Y, Suzuki Y, Chyo H, et al. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981; 99: 570–3.
    • (1981) J Pediatr , vol.99 , pp. 570-573
    • Kuroki, Y.1    Suzuki, Y.2    Chyo, H.3
  • 138
    • 0019850335 scopus 로고
    • Kabuki makeup syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency
    • Niikawa N, Matsuura N, Fukushima, et al. Kabuki makeup syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981; 99: 565–9.
    • (1981) J Pediatr , vol.99 , pp. 565-569
    • Niikawa, N.1    Matsuura, N.2
  • 139
    • 19944428186 scopus 로고    scopus 로고
    • Further delineation of Kabuki syndrome in 48 well-defined new individuals
    • Armstrong L, El Moneim AA, Aleck K, et al. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet 2004; 132A: 265–72.
    • (2004) Am J Med Genet , vol.132A , pp. 265-272
    • Armstrong, L.1    El Moneim, A.A.2    Aleck, K.3
  • 140
    • 0026508774 scopus 로고
    • Cockayne syndrome: Review of 140 cases
    • Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992; 42: 68–84.
    • (1992) Am J Med Genet , vol.42 , pp. 68-84
    • Nance, M.A.1    Berry, S.A.2
  • 142
    • 0037253076 scopus 로고    scopus 로고
    • Ocular manifestations in the inherited DNA repair disorders
    • Dollfus H, Porto F, Caussade P, et al. Ocular manifestations in the inherited DNA repair disorders. Surv Ophthalmol 2003; 48: 107–22.
    • (2003) Surv Ophthalmol , vol.48 , pp. 107-122
    • Dollfus, H.1    Porto, F.2    Caussade, P.3
  • 143
    • 0020066520 scopus 로고
    • Failure of RNA synthesis to recover after UV-irradiation: An early defect in cells from individuals with Cockayne syndrome and xeroderma pigmentosa
    • Mayne LV, Lehmann AR. Failure of RNA synthesis to recover after UV-irradiation: an early defect in cells from individuals with Cockayne syndrome and xeroderma pigmentosa. Cancer Res 1982; 42: 1473–8.
    • (1982) Cancer Res , vol.42 , pp. 1473-1478
    • Mayne, L.V.1    Lehmann, A.R.2
  • 144
    • 0030826732 scopus 로고    scopus 로고
    • The Cockayne syndrome B protein, involved in transcriptioncoupled DNA repair, resides in an RNA polymerase II-containing complex
    • Van Gool AJ, Citterio E, Rademakers S, et al. The Cockayne syndrome B protein, involved in transcriptioncoupled DNA repair, resides in an RNA polymerase II-containing complex. EMBO J 1997; 16: 5955–65.
    • (1997) EMBO J , vol.16 , pp. 5955-5965
    • Van Gool, A.J.1    Citterio, E.2    Rademakers, S.3
  • 145
    • 0034727603 scopus 로고    scopus 로고
    • Cockayne syndrome and xeroderma pigmentosum
    • Rapin I, Lindenbaum Y, Dickson DW, et al. Cockayne syndrome and xeroderma pigmentosum. Neurology 2000; 55: 1442–9.
    • (2000) Neurology , vol.55 , pp. 1442-1449
    • Rapin, I.1    Lindenbaum, Y.2    Dickson, D.W.3
  • 146
    • 0033912653 scopus 로고    scopus 로고
    • Manitoba aboriginal kindred with original cerebro-oculo-facioskeletal syndrome has a mutation in the Cockayne syndrome group B gene
    • Meira LB, Graham JM Jr., Greenberg CR, et al. Manitoba aboriginal kindred with original cerebro-oculo-facioskeletal syndrome has a mutation in the Cockayne syndrome group B gene. Am J Hum Genet 2000; 66: 1221–8.
    • (2000) Am J Hum Genet , vol.66 , pp. 1221-1228
    • Meira, L.B.1    Graham, J.M.2    Greenberg, C.R.3
  • 147
    • 0026780999 scopus 로고
    • Progeria: A human disease model of accelerated ageing
    • Brown WT. Progeria: a human disease model of accelerated ageing. Am J Clin Nutr 1992; 55: 1222S–1224S.
    • (1992) Am J Clin Nutr , vol.55 , pp. 1222S-1224S
    • Brown, W.T.1
  • 148
    • 7244239317 scopus 로고    scopus 로고
    • Hutchinson–Gilford progeria syndrome
    • Pollex RL, Hegele RA. Hutchinson–Gilford progeria syndrome. Clin Genet 2004; 66: 375–81.
    • (2004) Clin Genet , vol.66 , pp. 375-381
    • Pollex, R.L.1    Hegele, R.A.2
  • 149
    • 0019420688 scopus 로고
    • Cardiovascular abnormalities in progeria. Case report and review of the literature
    • Baker PB, Baba N, Boesel CP. Cardiovascular abnormalities in progeria. Case report and review of the literature. Arch Pathol Lab Med 1981; 105: 384–6.
    • (1981) Arch Pathol Lab Med , vol.105 , pp. 384-386
    • Baker, P.B.1    Baba, N.2    Boesel, C.P.3
  • 150
    • 10744229294 scopus 로고    scopus 로고
    • Lamin A truncation in Hutchinson–Gilford progeria
    • De Sandre-Giovannoli A, Bernard R, Cau P, et al. Lamin A truncation in Hutchinson–Gilford progeria. Science 2003; 300: 2055.
    • (2003) Science , vol.2055 , pp. 300
    • De Sandre-Giovannoli, A.1    Bernard, R.2    Cau, P.3
  • 151
    • 0037673950 scopus 로고    scopus 로고
    • Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome
    • Eriksson M, Brown WT, Gordon LB, et al. Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome. Nature 2003; 423: 293–8.
    • (2003) Nature , vol.423 , pp. 293-298
    • Eriksson, M.1    Brown, W.T.2    Gordon, L.B.3
  • 152
    • 85057707793 scopus 로고    scopus 로고
    • Nuclear envelope proteins and human disease
    • Evans DE, Hutchinson CJ, Bryant JA, eds., New York: BIOS Scientific Publishers
    • Worman HJ. Nuclear envelope proteins and human disease. In: Evans DE, Hutchinson CJ, Bryant JA, eds. The Nuclear Envelope. New York: BIOS Scientific Publishers, 2004: 41–56.
    • (2004) The Nuclear Envelope , pp. 41-56
    • Worman, H.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.