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Volumn 140, Issue 11, 2006, Pages 1172-1176

Gastrointestinal phenotype of ATR-X syndrome

Author keywords

ATR X syndrome; Enteric nervous system (ENS); Gastric pseudo volvulus; Gastro esophageal reflux (GER); Hirschsprung disease (HD)

Indexed keywords

ALPHA THALASSEMIA; ARTICLE; ATRX GENE; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; GASTROINTESTINAL DISEASE; GENE; GENITAL MALFORMATION; HIGH RISK PATIENT; HIRSCHSPRUNG DISEASE; HUMAN; INTESTINE INNERVATION; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; TORSION; X CHROMOSOME LINKAGE;

EID: 33744803518     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31248     Document Type: Article
Times cited : (17)

References (35)
  • 1
    • 0025866257 scopus 로고
    • Smith-Fineman-Myers syndrome in two brothers
    • Ades LC, Kerr B, Turner G, Wise G. 1991. Smith-Fineman-Myers syndrome in two brothers. Am J Med Genet 40:467-470.
    • (1991) Am J Med Genet , vol.40 , pp. 467-470
    • Ades, L.C.1    Kerr, B.2    Turner, G.3    Wise, G.4
  • 2
    • 0025942676 scopus 로고
    • Alpha thalassaemia/mental retardation syndrome (non-deletional type): Report of a family supporting X linked inheritance
    • Cole TR, May A, Hughes HE. 1991. Alpha thalassaemia/mental retardation syndrome (non-deletional type): Report of a family supporting X linked inheritance. J Med Genet 28:734-737.
    • (1991) J Med Genet , vol.28 , pp. 734-737
    • Cole, T.R.1    May, A.2    Hughes, H.E.3
  • 4
    • 0032977082 scopus 로고    scopus 로고
    • Biology of gastroesophageal reflux disease: Pathophysiology relating to medical and surgical treatment
    • DeMeester TR, Peters JH, Bremner CG, Chandrasoma P. 1999. Biology of gastroesophageal reflux disease: Pathophysiology relating to medical and surgical treatment. Annu Rev Med 50:469-506.
    • (1999) Annu Rev Med , vol.50 , pp. 469-506
    • DeMeester, T.R.1    Peters, J.H.2    Bremner, C.G.3    Chandrasoma, P.4
  • 5
    • 0025989438 scopus 로고
    • The non-deletion alpha thalassaemia/mental retardation syndrome: Further support for X linkage
    • Donnai D, Clayton-Smith J, Gibbons RJ, Higgs DR. 1991. The non-deletion alpha thalassaemia/mental retardation syndrome: Further support for X linkage. J Med Genet 28:742-745.
    • (1991) J Med Genet , vol.28 , pp. 742-745
    • Donnai, D.1    Clayton-Smith, J.2    Gibbons, R.J.3    Higgs, D.R.4
  • 6
    • 0034032867 scopus 로고    scopus 로고
    • Surgical therapy for atypical symptoms of GERD: Patient selection and preoperative evaluation
    • Floch NR. 2000. Surgical therapy for atypical symptoms of GERD: Patient selection and preoperative evaluation. J Clin Gastroenterol 30:S45-47.
    • (2000) J Clin Gastroenterol , vol.30
    • Floch, N.R.1
  • 7
    • 0034522528 scopus 로고    scopus 로고
    • Molecular-clinical spectrum of the ATR-X syndrome
    • Gibbons RJ, Higgs DR. 2000. Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet 97:204-212.
    • (2000) Am J Med Genet , vol.97 , pp. 204-212
    • Gibbons, R.J.1    Higgs, D.R.2
  • 9
    • 0028939603 scopus 로고
    • Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)
    • Gibbons RJ, Picketts DJ, Villard L, Higgs DR. 1995b. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80:837-845.
    • (1995) Cell , vol.80 , pp. 837-845
    • Gibbons, R.J.1    Picketts, D.J.2    Villard, L.3    Higgs, D.R.4
  • 10
    • 0025316022 scopus 로고
    • Idiopathic gastric volvulus in infancy and childhood
    • Honna T, Kamii Y, Tsuchida Y. 1990. Idiopathic gastric volvulus in infancy and childhood. J Pediatr Surg 25:707-710.
    • (1990) J Pediatr Surg , vol.25 , pp. 707-710
    • Honna, T.1    Kamii, Y.2    Tsuchida, Y.3
  • 11
    • 0029919960 scopus 로고    scopus 로고
    • A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome
    • Ion A, Telvi L, Chaussain JL, Galacteros F, Valayer J, Fellous M, McElreavey K. 1996. A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome. Am J Hum Genet 58:1185-1191.
    • (1996) Am J Hum Genet , vol.58 , pp. 1185-1191
    • Ion, A.1    Telvi, L.2    Chaussain, J.L.3    Galacteros, F.4    Valayer, J.5    Fellous, M.6    McElreavey, K.7
  • 12
    • 8944257236 scopus 로고
    • The nissen fundoplication
    • Holder TM, Ashcraft KW, editors. Orlando: Grune and Sutton
    • Johnson DG. 1986. The nissen fundoplication. In: Holder TM, Ashcraft KW, editors. Pediatric esophageal surgery. Orlando: Grune and Sutton. p 193-208.
    • (1986) Pediatric Esophageal Surgery , pp. 193-208
    • Johnson, D.G.1
  • 14
    • 0027818408 scopus 로고
    • X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family
    • Lefort G, Taib J, Toutain A, Houdayer C, Moraine CI, Humeau C, Sarda P. 1993. X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family. Ann Genet 36:200-205.
    • (1993) Ann Genet , vol.36 , pp. 200-205
    • Lefort, G.1    Taib, J.2    Toutain, A.3    Houdayer, C.4    Moraine, C.I.5    Humeau, C.6    Sarda, P.7
  • 16
    • 0031933473 scopus 로고    scopus 로고
    • Reproducibility of 24-hour intraesophageal pH monitoring in pediatric patients
    • Mahajan L, Wyllie R, Oliva L, Balsells F, Steffen R, Kay M. 1998. Reproducibility of 24-hour intraesophageal pH monitoring in pediatric patients. Pediatrics 101:260-263.
    • (1998) Pediatrics , vol.101 , pp. 260-263
    • Mahajan, L.1    Wyllie, R.2    Oliva, L.3    Balsells, F.4    Steffen, R.5    Kay, M.6
  • 17
    • 0024098510 scopus 로고
    • Hirschsprung's disease: Alpha-naphthylesterase activity in the enzyme-histochemical evaluation of the extent of the aganglionic segment during surgery
    • Martucciello G, Dodero P, Romanczuk W. 1988. Hirschsprung's disease: Alpha-naphthylesterase activity in the enzyme-histochemical evaluation of the extent of the aganglionic segment during surgery. Mater Med Pol 20:245-251.
    • (1988) Mater Med Pol , vol.20 , pp. 245-251
    • Martucciello, G.1    Dodero, P.2    Romanczuk, W.3
  • 18
    • 27444439452 scopus 로고    scopus 로고
    • Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: A report from the fourth International Symposium on Hirschsprung's disease and related neurocristopathies
    • Martucciello G, Prato AP, Puri P, Holschneider AM, Meier-Ruge W, Jasonni V, Tovar JA, Grosfeld JL. 2005. Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: A report from the fourth International Symposium on Hirschsprung's disease and related neurocristopathies. J Pediatr Surg 40:1527-1531.
    • (2005) J Pediatr Surg , vol.40 , pp. 1527-1531
    • Martucciello, G.1    Prato, A.P.2    Puri, P.3    Holschneider, A.M.4    Meier-Ruge, W.5    Jasonni, V.6    Tovar, J.A.7    Grosfeld, J.L.8
  • 19
    • 0020665681 scopus 로고
    • X-linked mental retardation, growth retardation, deafness and microgenitalism. A second familial report
    • Mattei JF, Collignon P, Ayme S, Giraud F. 1983. X-linked mental retardation, growth retardation, deafness and microgenitalism. A second familial report. Clin Genet 23:70-74.
    • (1983) Clin Genet , vol.23 , pp. 70-74
    • Mattei, J.F.1    Collignon, P.2    Ayme, S.3    Giraud, F.4
  • 20
    • 0028821354 scopus 로고
    • X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: A new kindred with severe genital anomalies and mild hematologic expression
    • McPherson EW, Clemens MM, Gibbons RJ, Higgs DR. 1995. X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: A new kindred with severe genital anomalies and mild hematologic expression. Am J Med Genet 55:302-306.
    • (1995) Am J Med Genet , vol.55 , pp. 302-306
    • McPherson, E.W.1    Clemens, M.M.2    Gibbons, R.J.3    Higgs, D.R.4
  • 21
    • 16244393692 scopus 로고    scopus 로고
    • Pathology of chronic constipation in pediatric and adult coloproctology
    • Meier-Ruge WA, Bruder E. 2005. Pathology of chronic constipation in pediatric and adult coloproctology. Pathobiology 72:1-102.
    • (2005) Pathobiology , vol.72 , pp. 1-102
    • Meier-Ruge, W.A.1    Bruder, E.2
  • 22
    • 0028293339 scopus 로고
    • X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): Further delineation of the phenotype
    • Ogle R, DeSouza M, Cunningham C, Kerr B, Sillence D. 1994. X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): Further delineation of the phenotype. J Med Genet 31:245-247.
    • (1994) J Med Genet , vol.31 , pp. 245-247
    • Ogle, R.1    DeSouza, M.2    Cunningham, C.3    Kerr, B.4    Sillence, D.5
  • 23
    • 0032607859 scopus 로고    scopus 로고
    • Gastroesophageal reflux
    • Orenstein SR. 1999. Gastroesophageal reflux. Pediatr Rev 20:24-28.
    • (1999) Pediatr Rev , vol.20 , pp. 24-28
    • Orenstein, S.R.1
  • 25
    • 0034848332 scopus 로고    scopus 로고
    • Solo-RBT: A new instrument for rectal suction biopsies in the diagnosis of Hirschsprung's disease
    • Pini Prato A, Martucciello G, Jasonni V. 2001. Solo-RBT: A new instrument for rectal suction biopsies in the diagnosis of Hirschsprung's disease. J Pediatr Surg 36:1364-1366.
    • (2001) J Pediatr Surg , vol.36 , pp. 1364-1366
    • Pini Prato, A.1    Martucciello, G.2    Jasonni, V.3
  • 26
    • 0025336965 scopus 로고
    • Unknown syndrome. A possible new X linked retardation syndrome: Dysmorphic fades, microcephaly, hypotonia, and small genitalia
    • Porteous ME, Burn J. 1990. Unknown syndrome. A possible new X linked retardation syndrome: Dysmorphic fades, microcephaly, hypotonia, and small genitalia. J Med Genet 27:339-340.
    • (1990) J Med Genet , vol.27 , pp. 339-340
    • Porteous, M.E.1    Burn, J.2
  • 27
    • 0028819376 scopus 로고
    • Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome
    • Reardon W, Gibbons RJ, Winter RM, Baraitser M. 1995. Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome. Am J Med Genet 55:285-287.
    • (1995) Am J Med Genet , vol.55 , pp. 285-287
    • Reardon, W.1    Gibbons, R.J.2    Winter, R.M.3    Baraitser, M.4
  • 28
    • 0022354480 scopus 로고
    • Endorectal pull-through: 20 Years experience. Address of the guest speaker, APSA, 1984
    • Soave F. 1985. Endorectal pull-through: 20 years experience. Address of the guest speaker, APSA, 1984. J Pediatr Surg 20:568-579.
    • (1985) J Pediatr Surg , vol.20 , pp. 568-579
    • Soave, F.1
  • 29
    • 33744824243 scopus 로고
    • Another X-linked mental retardation syndrome
    • Sommer A. 1990. Another X-linked mental retardation syndrome. Am J Med Genet 47:A78.
    • (1990) Am J Med Genet , vol.47
    • Sommer, A.1
  • 32
    • 0033624906 scopus 로고    scopus 로고
    • Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome
    • Villard L, Fontes M, Ades LC, Gecz J. 2000. Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. Am J Med Genet 91:83-85.
    • (2000) Am J Med Genet , vol.91 , pp. 83-85
    • Villard, L.1    Fontes, M.2    Ades, L.C.3    Gecz, J.4
  • 33
    • 0034684035 scopus 로고    scopus 로고
    • Molecular genetic study of Japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)
    • Wada T, Kubota T, Fukushima Y, Saitoh S. 2000. Molecular genetic study of Japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). Am J Med Genet 94:242-248.
    • (2000) Am J Med Genet , vol.94 , pp. 242-248
    • Wada, T.1    Kubota, T.2    Fukushima, Y.3    Saitoh, S.4
  • 35
    • 0026070052 scopus 로고
    • X linked alpha thalassaemia/mental retardation: Spectrum of clinical features in three related males
    • Wilkie AO, Gibbons RJ, Higgs DR, Pembrey ME. 1991. X linked alpha thalassaemia/mental retardation: Spectrum of clinical features in three related males. J Med Genet 28:738-741.
    • (1991) J Med Genet , vol.28 , pp. 738-741
    • Wilkie, A.O.1    Gibbons, R.J.2    Higgs, D.R.3    Pembrey, M.E.4


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