DOI: 10.1086/302010. Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy-Terminal Domain

Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy-Terminal Domain

10.1086/302010

Crossref journal-article

Elsevier BV

The American Journal of Human Genetics (78)

Bibliography

Gaudenz, K., Roessler, E., Quaderi, N., Franco, B., Feldman, G., Gasser, D. L., Wittwer, B., Montini, E., Opitz, J. M., Ballabio, A., & Muenke, M. (1998). Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy-Terminal Domain. The American Journal of Human Genetics, 63(3), 703â710.

Authors 11

Karin Gaudenz (first)
Erich Roessler (additional)
Nandita Quaderi (additional)
Brunella Franco (additional)
George Feldman (additional)
David L. Gasser (additional)
Bärbel Wittwer (additional)
Eugenio Montini (additional)
John M. Opitz (additional)
Andrea Ballabio (additional)
Maximilian Muenke (additional)

References 28 Referenced 55

10.1002/j.1460-2075.1993.tb05636.x / EMBO J / A putative zinc-binding protein on lampbrush chromosome loops by Bellini (1993)
10.1016/S0959-440X(96)80060-1 / Curr Opin Struct Biol / The RING finger domain: a recent example of a sequence-structure family by Borden (1996)
10.1073/pnas.93.4.1601 / Proc Natl Acad Sci USA / In vivo and in vitro characterization of the B1 and B2 zinc-binding domains from the acute promyelocytic leukemia protooncoprotein PML by Borden (1996)
10.1016/0014-5793(93)80741-C / FEBS Lett / Characterization of a novel cysteine/histidine-rich metal binding domain from Xenopus nuclear factor XNF7 by Borden (1993)
10.1002/ajmg.1320430318 / Am J Med Genet / Opitz (BBB/G) syndrome: oral manifestations by Brooks (1992)
10.1172/JCI115003 / J Clin Invest / Molecular definition and sequence motifs of the 52 kD component of human SS-A/Ro autoantigen by Chan (1991)
{'issue': '2', 'key': '10.1086/302010_bib7', 'first-page': '82', 'article-title': 'Familial telecanthus with associated congenital anomalies', 'volume': '5', 'author': 'Christian', 'year': '1969', 'journal-title': 'Birth Defects'} / Birth Defects / Familial telecanthus with associated congenital anomalies by Christian (1969)
10.1002/ajmg.1320020205 / Am J Med Genet / Phenotypic overlap of the BBB and G syndromes by Cordeiro (1978)
10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M / Hum Mutat / Proof of “disease causing” mutation by Cotton (1998)
10.1111/j.1399-0004.1983.tb00101.x / Clin Genet / Male to male transmission of the G syndrome by Farndon (1983)
10.1111/j.1749-6632.1993.tb32280.x / Ann N Y Acad Sci / The RING finger: a novel protein sequence motif related to the zinc finger by Freemont (1993)
10.1016/0092-8674(91)90229-R / Cell / A novel cysteine-rich sequence motif by Freemont (1991)
10.1073/pnas.90.23.11117 / Proc Natl Acad Sci USA / Genomic binding-site cloning reveals an estrogen-responsive gene that encodes a RING finger protein by Inoue (1993)
10.1002/(SICI)1096-8628(19970120)68:2<244::AID-AJMG27>3.0.CO;2-T / Am J Med Genet / Linkage analysis in a family with Opitz G/BBB syndrome refines the location of the gene on Xp22 to a 4 cM region by May (1997)
10.1002/ajmg.1320280203 / Am J Med Genet / G syndrome (hypertelorism and esophageal abnormality, and hypospadias, or hypospadias-dysphagia, or “Opitz-Frias” or “Opitz G” syndrome) perspective and bibliography in 1987 by Opitz (1987)
{'issue': '2', 'key': '10.1086/302010_bib16', 'first-page': '95', 'article-title': 'The G-syndrome of multiple congenital anomalies', 'volume': '5', 'author': 'Opitz', 'year': '1969', 'journal-title': 'Birth Defects'} / Birth Defects / The G-syndrome of multiple congenital anomalies by Opitz (1969)
{'issue': '2', 'key': '10.1086/302010_bib15', 'first-page': '86', 'article-title': 'The BBB syndrome: familial telecanthus with associated congenital anomalies', 'volume': '5', 'author': 'Opitz', 'year': '1969', 'journal-title': 'Birth Defects'} / Birth Defects / The BBB syndrome: familial telecanthus with associated congenital anomalies by Opitz (1969)
10.1073/pnas.85.8.2733 / Proc Natl Acad Sci USA / rpt-1, an intracellular protein from helper/inducer T cells that regulates gene expression of interleukin 2 receptor and human immunodeficiency virus type 1 by Patarca (1988)
10.1093/hmg/7.2.299 / Hum Mol Genet / The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome by Perry (1998)
10.1038/ng1197-285 / Nat Genet / Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 by Quaderi (1997)
10.1093/nar/19.22.6330 / Nucleic Acid Res / A unique bipartite cysteine-histidine motif defines a sub family of potential zinc-finger proteins by Reddy (1991)
10.1016/0968-0004(92)90308-V / Trends Biochem Sci / A novel zinc-finger coiled-coil domain in a family of nuclear proteins by Reddy (1992)
10.1016/0012-1606(91)90321-S / Dev Biol / The cloning and characterization of a maternally expressed novel zinc finger nuclear phosphoprotein (xnf7) in Xenopus laevis by Reddy (1991)
10.1038/ng1295-459 / Nat Genet / Opitz syndrome is genetically heterogeneous with one locus on Xp22 and a second locus on 22q11.2 by Robin (1995)
10.1002/(SICI)1096-8628(19960329)62:3<305::AID-AJMG20>3.0.CO;2-N / Am J Med Genet / Opitz G/BBB syndrome: clinical comparison of families linked to Xp22 and 22q and a review of the literature by Robin (1996)
10.1016/S0968-0004(96)80017-X / Trends Biochem Sci / Does this have a familiar RING? by Saurin (1996)
10.1002/ajmg.1320200203 / Am J Med Genet / Male to male transmission of the hypertelorism/hypospadias (BBB) syndrome by Stoll (1978)
10.1002/ajmg.1320590124 / Am J Med Genet / Opitz G/BBB syndrome: chromosomal evidence of an X-linked form by Verloes (1995)

Dates

Type	When
Created	23 years, 1 month ago (July 26, 2002, 2:47 p.m.)
Deposited	5 years, 5 months ago (March 3, 2020, 11:35 p.m.)
Indexed	3 months ago (May 24, 2025, 4:03 a.m.)
Issued	26 years, 11 months ago (Sept. 1, 1998)
Published	26 years, 11 months ago (Sept. 1, 1998)
Published Print	26 years, 11 months ago (Sept. 1, 1998)

Funders 0

None

BibTeX

@article{Gaudenz_1998, title={Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy-Terminal Domain}, volume={63}, ISSN={0002-9297}, url={http://dx.doi.org/10.1086/302010}, DOI={10.1086/302010}, number={3}, journal={The American Journal of Human Genetics}, publisher={Elsevier BV}, author={Gaudenz, Karin and Roessler, Erich and Quaderi, Nandita and Franco, Brunella and Feldman, George and Gasser, David L. and Wittwer, Bärbel and Montini, Eugenio and Opitz, John M. and Ballabio, Andrea and Muenke, Maximilian}, year={1998}, month=sep, pages={703–710} }

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  "published": {
    "date-parts": [
      [
        1998,
        9
      ]
    ]
  }
}