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116 results
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A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.
Goodman FR, Majewski F, Collins AL, Scambler PJ. Goodman FR, et al. Among authors: majewski f. Am J Hum Genet. 2002 Feb;70(2):547-55. doi: 10.1086/338921. Epub 2002 Jan 3. Am J Hum Genet. 2002. PMID: 11778160 Free PMC article.
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.
Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ. Goodman FR, et al. Among authors: majewski f. Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7458-63. doi: 10.1073/pnas.94.14.7458. Proc Natl Acad Sci U S A. 1997. PMID: 9207113 Free PMC article.
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM. Musante L, et al. Among authors: majewski f. Eur J Hum Genet. 2003 Feb;11(2):201-6. doi: 10.1038/sj.ejhg.5200935. Eur J Hum Genet. 2003. PMID: 12634870
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D. Türkmen S, et al. Among authors: majewski f. Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050. Eur J Hum Genet. 2003. PMID: 14571271
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B. Lüdecke HJ, et al. Among authors: majewski f. Am J Hum Genet. 2001 Jan;68(1):81-91. doi: 10.1086/316926. Epub 2000 Dec 7. Am J Hum Genet. 2001. PMID: 11112658 Free PMC article.
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.
Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becker A, Brueton L, Lee PJ, Majewski F, Mulliken JB, Suri M, Zenker M, Mundlos S, Otto F. Quack I, et al. Among authors: majewski f. Am J Hum Genet. 1999 Nov;65(5):1268-78. doi: 10.1086/302622. Am J Hum Genet. 1999. PMID: 10521292 Free PMC article.
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. van Bokhoven H, et al. Among authors: majewski f. Am J Hum Genet. 2001 Sep;69(3):481-92. doi: 10.1086/323123. Epub 2001 Jul 17. Am J Hum Genet. 2001. PMID: 11462173 Free PMC article.
Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance.
Majewski F, Küster W, ter Haar B, Goecke T. Majewski F, et al. Hum Genet. 1985;70(2):136-47. doi: 10.1007/BF00273072. Hum Genet. 1985. PMID: 4007857
Rectal atresia as rare manifestation in EEC syndrome.
Majewski F, Goecke T. Majewski F, et al. Am J Med Genet. 1996 May 3;63(1):190-2. doi: 10.1002/(SICI)1096-8628(19960503)63:1<190::AID-AJMG33>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8723108
Bilateral complete polysyndactyly (type IV Haas).
Gillessen-Kaesbach G, Majewski F. Gillessen-Kaesbach G, et al. Among authors: majewski f. Am J Med Genet. 1991 Jan;38(1):29-31. doi: 10.1002/ajmg.1320380108. Am J Med Genet. 1991. PMID: 1849351
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