1 - 25 of 41 results for author:"Unger S." in Literature citations
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| TRPV4-associated skeletal dysplasias. Nishimura G., Lausch E., Savarirayan R., Shiba M., Spranger J., Zabel B., Ikegawa S., Superti-Furga A., Unger S. Am J Med Genet C Semin Med Genet 160C:190-204(2012) · Mapped (1) |
| Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. Mendoza-Londono R., Chitayat D., Kahr W.H., Hinek A., Blaser S., Dupuis L., Goh E., Badilla-Porras R., Howard A., Mittaz L. et al. Am. J. Med. Genet. A 158A:1344-1354(2012) · Mapped (1) |
| Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Boyden E.D., Campos-Xavier A.B., Kalamajski S., Cameron T.L., Suarez P., Tanackovic G., Andria G., Ballhausen D., Briggs M.D., Hartley C. et al. Am. J. Hum. Genet. 89:767-772(2011) · UniProtKB (1) · Mapped (7) |
| Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Vissers L.E., Fano V., Martinelli D., Campos-Xavier B., Barbuti D., Cho T.J., Dursun A., Kim O.H., Lee S.H., Timpani G. et al. Am. J. Med. Genet. A 155A:2609-2616(2011) · Mapped (9) |
| Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. Kim O.H., Park H., Seong M.W., Cho T.J., Nishimura G., Superti-Furga A., Unger S., Ikegawa S., Choi I.H., Song H.R. et al. Am. J. Med. Genet. A 155A:2669-2680(2011) · Mapped (11) |
| Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? Unger S., Lausch E., Stanzial F., Gillessen-Kaesbach G., Stefanova I., Di Stefano C.M., Bertini E., Dionisi-Vici C., Nilius B., Zabel B. et al. Am. J. Med. Genet. A 155A:2860-2864(2011) · Mapped (1) |
| Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Jackson G.C., Mittaz-Crettol L., Taylor J.A., Mortier G.R., Spranger J., Zabel B., Le Merrer M., Cormier-Daire V., Hall C.M., Offiah A. et al. |
| Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Le Goff C., Mahaut C., Wang L.W., Allali S., Abhyankar A., Jensen S., Zylberberg L., Collod-Beroud G., Bonnet D., Alanay Y. et al. Am. J. Hum. Genet. 89:7-14(2011) · UniProtKB (1) · Mapped (13) |
| Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Vissers L.E., Lausch E., Unger S., Campos-Xavier A.B., Gilissen C., Rossi A., Del Rosario M., Venselaar H., Knoll U., Nampoothiri S. et al. Am. J. Hum. Genet. 88:608-615(2011) · UniProtKB (1) · Mapped (1) |
| Triclosan and thyroid-mediated metamorphosis in anurans: differentiating growth effects from thyroid-driven metamorphosis in Xenopus laevis. Fort D.J., Mathis M.B., Hanson W., Fort C.E., Navarro L.T., Peter R., Buche C., Unger S., Pawlowski S., Plautz J.R. Toxicol. Sci. 121:292-302(2011) · Mapped (2) |
| Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. Allali S., Le Goff C., Pressac-Diebold I., Pfennig G., Mahaut C., Dagoneau N., Alanay Y., Brady A.F., Crow Y.J., Devriendt K. et al. J. Med. Genet. 48:417-421(2011) · UniProtKB (1) · Mapped (2) |
| Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation. Garavelli L., Wischmeijer A., Rosato S., Gelmini C., Reverberi S., Sassi S., Ferrari A., Mari F., Zabel B., Lausch E. et al. Am. J. Med. Genet. A 155:332-336(2011) · UniProtKB (1) |
| Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. Kim S.J., Bieganski T., Sohn Y.B., Kozlowski K., Semenov M., Okamoto N., Kim C.H., Ko A.R., Ahn G.H., Choi Y.L. et al. |
| Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Lausch E., Janecke A., Bros M., Trojandt S., Alanay Y., De Laet C., Hubner C.A., Meinecke P., Nishimura G., Matsuo M. et al. |
| A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death. Jakob A., Unger S., Arnold R., Grohmann J., Kraus C., Schlensak C., Stiller B. Cardiol Young 21:62-65(2011) · Mapped (14) |
| CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. Furuichi T., Dai J., Cho T.J., Sakazume S., Ikema M., Matsui Y., Baynam G., Nagai T., Miyake N., Matsumoto N. et al. |
| Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Unger S., Lausch E., Rossi A., Megarbane A., Sillence D., Alcausin M., Aytes A., Mendoza-Londono R., Nampoothiri S., Afroze B. et al. Am. J. Med. Genet. A 152A:2543-2549(2010) · Mapped (1) |
| Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. Dai J., Kim O.H., Cho T.J., Schmidt-Rimpler M., Tonoki H., Takikawa K., Haga N., Miyoshi K., Kitoh H., Yoo W.J. et al. J. Med. Genet. 47:704-709(2010) · UniProtKB (1) |
| Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Nishimura G., Dai J., Lausch E., Unger S., Megarbane A., Kitoh H., Kim O.H., Cho T.J., Bedeschi F., Benedicenti F. et al. Am. J. Med. Genet. A 152:1443-1449(2010) · UniProtKB (1) |
| Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. Lausch E., Keppler R., Hilbert K., Cormier-Daire V., Nikkel S., Nishimura G., Unger S., Spranger J., Superti-Furga A., Zabel B. Am. J. Hum. Genet. 85:168-178(2009) · UniProtKB (2) · Mapped (14) |
| Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. Furuichi T., Kayserili H., Hiraoka S., Nishimura G., Ohashi H., Alanay Y., Lerena J.C., Aslanger A.D., Koseki H., Cohn D.H. et al. J. Med. Genet. 46:562-568(2009) · Mapped (1) |
| Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Campos-Xavier A.B., Martinet D., Bateman J., Belluoccio D., Rowley L., Tan T.Y., Baxova A., Gustavson K.H., Borochowitz Z.U., Innes A.M. et al. Am. J. Hum. Genet. 84:760-770(2009) · UniProtKB (2) · Mapped (1) |
| A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Huber C., Delezoide A.L., Guimiot F., Baumann C., Malan V., Le Merrer M., Da Silva D.B., Bonneau D., Chatelain P., Chu C. et al. Eur. J. Hum. Genet. 17:395-400(2009) · Mapped (4) |
| TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Lausch E., Hermanns P., Farin H.F., Alanay Y., Unger S., Nikkel S., Steinwender C., Scherer G., Spranger J., Zabel B. et al. Am. J. Hum. Genet. 83:649-655(2008) · UniProtKB (1) · Mapped (4) |
| The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. Fukada T., Civic N., Furuichi T., Shimoda S., Mishima K., Higashiyama H., Idaira Y., Asada Y., Kitamura H., Yamasaki S. et al. PLoS ONE 3:e3642-e3642(2008) · Mapped (3) |