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Volumn 61, Issue 2, 1997, Pages 395-401

A submicroscopic deletion in Xq26 associated with familial situs ambiguus

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME XQ; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCATION; HUMAN; MALE; MALROTATION SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SPLEEN;

EID: 16944362226     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/514857     Document Type: Article
Times cited : (72)

References (33)
  • 2
    • 0001668367 scopus 로고
    • Immotile-cilia syndrome (primary ciliary dyskinesia), including Kartagener syndrome
    • Scriver C, Beaudet A, Sly W, Valle D (eds) McGraw-Hill, New York
    • Afzelius B, Mossberg B (1994) Immotile-cilia syndrome (primary ciliary dyskinesia), including Kartagener syndrome. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic basis of inherited disease, 7th ed. McGraw-Hill, New York, pp 3943-3954
    • (1994) The Metabolic Basis of Inherited Disease, 7th Ed. , pp. 3943-3954
    • Afzelius, B.1    Mossberg, B.2
  • 4
    • 0028169992 scopus 로고
    • HNF-3β is essential for node and notochord formation in mouse development
    • Ang S-L, Rossant J (1994) HNF-3β is essential for node and notochord formation in mouse development. Cell 78:561-574
    • (1994) Cell , vol.78 , pp. 561-574
    • Ang, S.-L.1    Rossant, J.2
  • 5
    • 0001564443 scopus 로고
    • The spleen
    • Stevenson RE, Hall JG, Goodman RM (eds) Oxford University Press, New York
    • Aylsworth AS (1993) The spleen. In: Stevenson RE, Hall JG, Goodman RM (eds) Human malformations and related anomalies. Oxford University Press, New York, pp 307-317
    • (1993) Human Malformations and Related Anomalies , pp. 307-317
    • Aylsworth, A.S.1
  • 6
    • 0029060788 scopus 로고
    • Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality
    • Britz-Cunningham S, Shah M, Zuppan C, Fletcher W (1995) Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med 332:1323-1329
    • (1995) N Engl J Med , vol.332 , pp. 1323-1329
    • Britz-Cunningham, S.1    Shah, M.2    Zuppan, C.3    Fletcher, W.4
  • 7
    • 0026276677 scopus 로고
    • Disturbance of morphological laterality in humans
    • Bock GR, Marsh J (eds) Wiley, Chichester
    • Burn J (1991) Disturbance of morphological laterality in humans. In: Bock GR, Marsh J (eds) Biological asymmetry and handedness. Wiley, Chichester, pp 282-299
    • (1991) Biological Asymmetry and Handedness , pp. 282-299
    • Burn, J.1
  • 9
    • 0027454207 scopus 로고
    • Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1
    • Casey B, Devoto M, Jones K, Ballabio A (1993) Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nat Genet 5:403-407
    • (1993) Nat Genet , vol.5 , pp. 403-407
    • Casey, B.1    Devoto, M.2    Jones, K.3    Ballabio, A.4
  • 10
  • 11
    • 0029993646 scopus 로고    scopus 로고
    • Relationship between asymmetric nodal expression and the direction of embryonic turning
    • Collignon J, Varlet I, Robertson EJ (1996) Relationship between asymmetric nodal expression and the direction of embryonic turning. Nature 381:155-158
    • (1996) Nature , vol.381 , pp. 155-158
    • Collignon, J.1    Varlet, I.2    Robertson, E.J.3
  • 12
    • 0029024046 scopus 로고
    • Distinct expression and shared activities of members of the hedgehog gene family of Xenopus laevis
    • Ekker S, Lai L, Lee J, von Kessler D, Moon R, Beachy P (1995) Distinct expression and shared activities of members of the hedgehog gene family of Xenopus laevis. Development 121: 2337-2347
    • (1995) Development , vol.121 , pp. 2337-2347
    • Ekker, S.1    Lai, L.2    Lee, J.3    Von Kessler, D.4    Moon, R.5    Beachy, P.6
  • 13
    • 0028113568 scopus 로고
    • Expression of activin subunits, activin receptors and folistatin in postimplantation mouse embryos suggests specific developmental functions for different activins
    • Feijen A, Goumans M, van den Eijnden-van Raaij A (1994) Expression of activin subunits, activin receptors and folistatin in postimplantation mouse embryos suggests specific developmental functions for different activins. Development 120:3621-3637
    • (1994) Development , vol.120 , pp. 3621-3637
    • Feijen, A.1    Goumans, M.2    Van Den Eijnden-van Raaij, A.3
  • 14
    • 0030038480 scopus 로고    scopus 로고
    • Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11; 20)(q13.1;q13.13)]
    • Freeman SB, Muralidharan K, Pettay D, Blackston R, May K (1996) Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11; 20)(q13.1;q13.13)]. Am J Med Genet 61:340-344
    • (1996) Am J Med Genet , vol.61 , pp. 340-344
    • Freeman, S.B.1    Muralidharan, K.2    Pettay, D.3    Blackston, R.4    May, K.5
  • 15
    • 0029825134 scopus 로고    scopus 로고
    • Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy
    • Gebbia M, Towbin JA, Casey B (1996) Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Circulation 94:1909-1912
    • (1996) Circulation , vol.94 , pp. 1909-1912
    • Gebbia, M.1    Towbin, J.A.2    Casey, B.3
  • 17
    • 0026768887 scopus 로고
    • Embryonic expression and functional analysis of a Xenopus activin receptor
    • Hemmati-Brivanlou A, Wright D, Melton D (1992) Embryonic expression and functional analysis of a Xenopus activin receptor. Dev Dyn 194:1-11
    • (1992) Dev Dyn , vol.194 , pp. 1-11
    • Hemmati-Brivanlou, A.1    Wright, D.2    Melton, D.3
  • 18
    • 0029671231 scopus 로고    scopus 로고
    • Molecular cloning of Xenopus activin type 1 receptor and the analysis of its expression during embryogenesis
    • Kondo M, Semba K, Shiokawa K, Yamamoto T (1996) Molecular cloning of Xenopus activin type 1 receptor and the analysis of its expression during embryogenesis. Biochem Biophys Res Commun 218:549-555
    • (1996) Biochem Biophys Res Commun , vol.218 , pp. 549-555
    • Kondo, M.1    Semba, K.2    Shiokawa, K.3    Yamamoto, T.4
  • 19
    • 0029089617 scopus 로고
    • A molecular pathway determining left-right asymmetry in chick embryogenesis
    • Levin M, Johnson R, Stern C, Kuehn M, Tabin C (1995) A molecular pathway determining left-right asymmetry in chick embryogenesis. Cell 82:803-814
    • (1995) Cell , vol.82 , pp. 803-814
    • Levin, M.1    Johnson, R.2    Stern, C.3    Kuehn, M.4    Tabin, C.5
  • 20
    • 0029913091 scopus 로고    scopus 로고
    • Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus
    • Lowe L, Supp D, Sampath K, Yokoyama T, Wright C, Potter S, Overbeek P, et al (1996) Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus. Nature 381:158-161
    • (1996) Nature , vol.381 , pp. 158-161
    • Lowe, L.1    Supp, D.2    Sampath, K.3    Yokoyama, T.4    Wright, C.5    Potter, S.6    Overbeek, P.7
  • 22
    • 0023625914 scopus 로고
    • X-linked laterality sequence: Situs inversus, complex cardiac defects, splenic defects
    • Mathias RS, Lacro RV, Jones KL (1987) X-linked laterality sequence: situs inversus, complex cardiac defects, splenic defects. Am J Med Genet 28:111-116
    • (1987) Am J Med Genet , vol.28 , pp. 111-116
    • Mathias, R.S.1    Lacro, R.V.2    Jones, K.L.3
  • 23
    • 0028929864 scopus 로고
    • Different phenotypes for mice deficient in either activins or activin receptor type II
    • Matzuk M, Kumar T, Bradley A (1995) Different phenotypes for mice deficient in either activins or activin receptor type II. Nature 374:356-360
    • (1995) Nature , vol.374 , pp. 356-360
    • Matzuk, M.1    Kumar, T.2    Bradley, A.3
  • 24
    • 0029932564 scopus 로고    scopus 로고
    • Left-right asymmetric expression of the TGFβ-family member lefty in mouse embryos
    • Meno C, Saijoh Y, Fujii H, Ikeda M, Yokoyama T, Yokoyama M, Toyoda Y (1996) Left-right asymmetric expression of the TGFβ-family member lefty in mouse embryos. Nature 381:151-155
    • (1996) Nature , vol.381 , pp. 151-155
    • Meno, C.1    Saijoh, Y.2    Fujii, H.3    Ikeda, M.4    Yokoyama, T.5    Yokoyama, M.6    Toyoda, Y.7
  • 27
    • 0004600209 scopus 로고    scopus 로고
    • Absence of mutations in the regulatory domain of the gap junction protein Connexin43 in patients with visceroatrial heterotaxy
    • Penman-Splitt M, Tsai MY, Burn J, Goodship J (1997) Absence of mutations in the regulatory domain of the gap junction protein Connexin43 in patients with visceroatrial heterotaxy. Heart 77:369-370
    • (1997) Heart , vol.77 , pp. 369-370
    • Penman-Splitt, M.1    Tsai, M.Y.2    Burn, J.3    Goodship, J.4
  • 28
    • 0029896287 scopus 로고    scopus 로고
    • YAC/STS map of 9 Mb of Xq26 at 100-kb resolution, localizing 6 ESTs, 6 genes, and 32 genetic markers
    • Pilia G, MacMillan S, Nagaraja R, Mumm S, Weissenbach J, Schlessinger D (1996) YAC/STS map of 9 Mb of Xq26 at 100-kb resolution, localizing 6 ESTs, 6 genes, and 32 genetic markers. Genomics 34:55-62
    • (1996) Genomics , vol.34 , pp. 55-62
    • Pilia, G.1    MacMillan, S.2    Nagaraja, R.3    Mumm, S.4    Weissenbach, J.5    Schlessinger, D.6
  • 30
    • 0028240483 scopus 로고
    • A YAC-based binning strategy for facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22
    • Wapenaar M, Schiaffino M, Bassi M, Schaefer L, Chinault A, Zoghbi H, Ballabio A (1994) A YAC-based binning strategy for facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22. Hum Mol Genet 3: 1155-1161
    • (1994) Hum Mol Genet , vol.3 , pp. 1155-1161
    • Wapenaar, M.1    Schiaffino, M.2    Bassi, M.3    Schaefer, L.4    Chinault, A.5    Zoghbi, H.6    Ballabio, A.7
  • 31
    • 0028025566 scopus 로고
    • The winged-helix transcription factor HNF-3β is required for notochord development in the mouse embryo
    • Weinstein D, Altaba A, Chen W, Hoodless P, Prezioso V, Jessell T, Darnell J (1994) The winged-helix transcription factor HNF-3β is required for notochord development in the mouse embryo. Cell 78:575-588
    • (1994) Cell , vol.78 , pp. 575-588
    • Weinstein, D.1    Altaba, A.2    Chen, W.3    Hoodless, P.4    Prezioso, V.5    Jessell, T.6    Darnell, J.7
  • 33
    • 0027510084 scopus 로고
    • Nodal is a novel TGF-β-like gene expressed in the mouse node during gastrulation
    • Zhou X, Sasaki H, Lowe L, Hogan BL, Kuehn MR (1993) Nodal is a novel TGF-β-like gene expressed in the mouse node during gastrulation. Nature 361:543-546
    • (1993) Nature , vol.361 , pp. 543-546
    • Zhou, X.1    Sasaki, H.2    Lowe, L.3    Hogan, B.L.4    Kuehn, M.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.