Crossref journal-article
Elsevier BV
Cell (78)
Bibliography

Shiang, R., Thompson, L. M., Zhu, Y.-Z., Church, D. M., Fielder, T. J., Bocian, M., Winokur, S. T., & Wasmuth, J. J. (1994). Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell, 78(2), 335–342.

Authors 8
  1. Rita Shiang (first)
  2. Leslie M. Thompson (additional)
  3. Ya-Zhen Zhu (additional)
  4. Deanna M. Church (additional)
  5. Thomas J. Fielder (additional)
  6. Maureen Bocian (additional)
  7. Sara T. Winokur (additional)
  8. John J. Wasmuth (additional)
References 39 Referenced 1,056
  1. 10.1016/0014-5793(93)80882-U / FEBS Lett. / A novel form of FGF receptor-3 using an alternative exon in the immunoglobulin domain III by Avivi (1993)
  2. 10.1016/0092-8674(84)90081-3 / Cell / Restriction sites containing CpG show a higher frequency of polymorphisms in human DNA by Barker (1984)
  3. 10.1016/S0065-230X(08)60305-X / Adv. Cancer Res. / The FGF family of growth factors and oncogenes by Basilico (1992)
  4. 10.1038/ng0693-181 / Nature Genet. / A cosmid contig and high resolution map of the 2 megabase region containing the Huntington's disease gene by Baxendale (1993)
  5. 10.1093/nar/8.7.1499 / Nucl. Acids Res. / DNA methylation and the frequency of CpG in animal DNA by Bird (1980)
  6. 10.1016/S0021-9258(19)78170-8 / J. Biol. Chem. / Fibroblast growth factor receptor (FGFR) 3 by Chellaiah (1994)
  7. 10.1038/287560a0 / Nature / Mutagenic deamination of cytosine residues in DNA by Duncan (1980)
  8. {'key': '10.1016/0092-8674(94)90302-6_BIB8', 'first-page': '1195', 'article-title': 'Alternative splicing generates at least five different isoforms of the human basic-FGF receptor', 'volume': '6', 'author': 'Eisemann', 'year': '1991', 'journal-title': 'Oncogene'} / Oncogene / Alternative splicing generates at least five different isoforms of the human basic-FGF receptor by Eisemann (1991)
  9. 10.1093/hmg/3.5.787 / Hum. Mol. Genet. / Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p by Francomano (1994)
  10. 10.1038/ng0594-64 / Nature Genet. / Heterozygous missense mutation in the rod cGMP phosphodiesterase β-subunit gene in autosomal dominant stationary night blindness by Gal (1994)
  11. {'key': '10.1016/0092-8674(94)90302-6_BIB11', 'series-title': 'Syndromes of the Head and Neck', 'author': 'Gorlin', 'year': '1990'} / Syndromes of the Head and Neck by Gorlin (1990)
  12. 10.1038/306234a0 / Nature / A polymorphic DNA marker genetically linked to Huntington's disease by Gusella (1983)
  13. {'key': '10.1016/0092-8674(94)90302-6_BIB13', 'first-page': '454', 'article-title': 'Mortality in achondroplasia', 'volume': '41', 'author': 'Hecht', 'year': '1987', 'journal-title': 'Am. J. Hum. Genet.'} / Am. J. Hum. Genet. / Mortality in achondroplasia by Hecht (1987)
  14. 10.1016/S0065-230X(08)60821-0 / Adv. Cancer Res. / Structural and functional diversity in the FGF receptor multigene family by Johnson (1993)
  15. 10.1128/MCB.11.9.4627 / Mol. Cell. Biol. / The human fibroblast growth factor receptor genes: a common structural arrangement underlies the mechanisms for generating receptor forms that differ in their third immunoglobulin domain by Johnson (1991)
  16. {'key': '10.1016/0092-8674(94)90302-6_BIB16', 'series-title': "Smith's Recognizable Patterns of Human Malformation", 'author': 'Jones', 'year': '1988'} / Smith's Recognizable Patterns of Human Malformation by Jones (1988)
  17. {'key': '10.1016/0092-8674(94)90302-6_BIB17', 'first-page': '1095', 'article-title': 'Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3', 'volume': '88', 'author': 'Keegan', 'year': '1991'} / Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3 by Keegan (1991)
  18. 10.1038/ng0394-318 / Nature Genet. / A gene for achondroplasia-hypochondroplasia maps to chromosome 4p by Le Merrer (1994)
  19. 10.1016/0076-6879(87)55032-7 / Meth. Enzymol. / Computation simulation of DNA melting and its applicating to denaturing gradient gel electrophoresis by Lerman (1987)
  20. 10.1007/BF01233067 / Somat. Cell Mol. Genet. / Huntington's disease-linked locus D4S111 exposed as the α-L-iduronidase gene by MacDonald (1991)
  21. {'key': '10.1016/0092-8674(94)90302-6_BIB21', 'first-page': '246', 'article-title': 'Determination of ligand binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene', 'volume': '89', 'author': 'Miki', 'year': '1992'} / Determination of ligand binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene by Miki (1992)
  22. 10.1016/0076-6879(87)55033-9 / Meth. Enzymol. / Detection and localization of single base changes by denaturing gradient gel electrophoresis by Myers (1987)
  23. 10.1136/jmg.16.2.140 / J. Med. Genet. / Achondroplasia and hypochondroplaisa by Oberklaid (1979)
  24. 10.1016/S0021-9258(18)42001-7 / J. Biol. Chem. / Ligand specificity and heparin dependence of fibroblast growth factor receptors 1 and 3 by Ornitz (1992)
  25. 10.1006/dbio.1993.1205 / Dev. Biol. / Developmental localization of the splicing alternatives of fibroblast growth factor receptor-2 (FGFR2) by Orr-Urtreger (1993)
  26. 10.1002/j.1460-2075.1991.tb07654.x / EMBO J. / FGFR-4, a novel acidic fibroblast growth factor receptor with a distinct expression pattern by Partanen (1991)
  27. {'key': '10.1016/0092-8674(94)90302-6_BIB27', 'first-page': '5812', 'article-title': 'A distinctive family of embryonic protein-tyrosine kinase receptors', 'volume': '87', 'author': 'Pasquale', 'year': '1990'} / A distinctive family of embryonic protein-tyrosine kinase receptors by Pasquale (1990)
  28. 10.1002/ajmg.1320160404 / Am. J. Hum. Genet. / Homozgyous achondroplasia with survival beyond infancy by Pauli (1983)
  29. 10.1006/dbio.1993.1040 / Dev. Biol. / Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis by Peters (1993)
  30. {'key': '10.1016/0092-8674(94)90302-6_BIB30', 'first-page': '5463', 'article-title': 'DNA sequencing with chain-terminating inhibitors', 'volume': '74', 'author': 'Sanger', 'year': '1977'} / DNA sequencing with chain-terminating inhibitors by Sanger (1977)
  31. {'key': '10.1016/0092-8674(94)90302-6_BIB31', 'first-page': '232', 'article-title': 'Attachment of a 40-base-pair G+C sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes', 'volume': '86', 'author': 'Sheffield', 'year': '1989'} / Attachment of a 40-base-pair G+C sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes by Sheffield (1989)
  32. 10.1038/ng1293-351 / Nature Genet. / Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia by Shiang (1993)
  33. 10.1002/ajmg.1320370323 / Am. J. Med. Genet. / Homozygous achondroplasia: morphologic and biochemical study of cartilage by Stanescu (1990)
  34. 10.1016/0888-7543(91)90041-C / Genomics / A gene encoding a fibroblast growth factor receptor isolated from the Huntington's disease gene region of human chromosome 4 by Thompson (1991)
  35. 10.1016/0092-8674(90)90801-K / Cell / Signal transduction by receptors with tyrosine kinase activity by Ullrich (1990)
  36. 10.1038/ng0394-314 / Nature Genet. / The gene for achondroplasia maps to the telomeric region of chromosome 4p by Velinov (1994)
  37. 10.1093/nar/19.22.6263 / Nucl. Acids Res. / Genomic organization and complete sequence of the human gene encoding the β-subunit of the cGMP phosphodiesterase and its localization to 4p16.3 by Weber (1991)
  38. 10.1128/MCB.12.1.82 / Mol. Cell. Biol. / Differential splicing in the extracellular region of fibroblast growth factor receptor 1 generates receptor variants with different ligand-binding specificities by Werner (1992)
  39. 10.1093/hmg/2.7.889 / Hum. Mol. Genet. / Construction of cosmid contigs and high-resolution restriction mapping of the Huntington's disease region of human chromosome 4 by Zuo (1993)
Dates
Type When
Created 21 years, 4 months ago (May 4, 2004, 6:14 a.m.)
Deposited 4 years, 2 months ago (June 17, 2021, 4:08 a.m.)
Indexed 10 hours, 55 minutes ago (Sept. 6, 2025, 3:58 p.m.)
Issued 31 years, 2 months ago (July 1, 1994)
Published 31 years, 2 months ago (July 1, 1994)
Published Print 31 years, 2 months ago (July 1, 1994)
Funders 0

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@article{Shiang_1994, title={Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia}, volume={78}, ISSN={0092-8674}, url={http://dx.doi.org/10.1016/0092-8674(94)90302-6}, DOI={10.1016/0092-8674(94)90302-6}, number={2}, journal={Cell}, publisher={Elsevier BV}, author={Shiang, Rita and Thompson, Leslie M. and Zhu, Ya-Zhen and Church, Deanna M. and Fielder, Thomas J. and Bocian, Maureen and Winokur, Sara T. and Wasmuth, John J.}, year={1994}, month=jul, pages={335–342} }