F Majewski
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Explore the profile of F Majewski including associated specialties, affiliations and a list of published articles.
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105
Citations
960
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Recent Articles
1.
Heiss N, Megarbane A, Klauck S, Kreuz F, Makhoul E, Majewski F, et al.
Genet Couns
. 2001 Aug;
12(2):129-36.
PMID: 11491307
X-linked dyskeratosis congenita (DKC) is a progressive multisystem disorder most severely affecting tissues with a high cellular turnover such as skin, mucous membranes, and blood. Most patients die of bone...
2.
van Bokhoven H, Hamel B, Bamshad M, SANGIORGI E, Gurrieri F, Duijf P, et al.
Am J Hum Genet
. 2001 Jul;
69(3):481-92.
PMID: 11462173
p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM). We performed p63 mutation analysis in...
3.
Wieczorek D, Krause M, Majewski F, Albrecht B, Meinecke P, Riess O, et al.
J Med Genet
. 2001 Feb;
37(10):798-804.
PMID: 11183188
No abstract available.
4.
Ludecke H, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D , et al.
Am J Hum Genet
. 2000 Dec;
68(1):81-91.
PMID: 11112658
Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Three subtypes have been described: TRPS I, caused by mutations in the TRPS1 gene on chromosome 8; TRPS II, a...
5.
Majewski F
Am J Med Genet
. 2000 Aug;
93(4):335-8.
PMID: 10946362
In 1974, Lenz and Majewski gave a short description of a 2-year-old girl with generalized hyperostosis, proximal symphalangism, syndactyly, brachydactyly, cutis laxa, mental retardation, marked hypertelorism, and enamel hypoplasia. This...
6.
Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, et al.
Eur J Hum Genet
. 2000 Jul;
8(7):519-26.
PMID: 10909852
We performed clinical, cytogenetic, and molecular analyses on 13 patients (8 females and 5 males, aged 6 months to 13 years) with Wolf-Hirschhorn syndrome due to de novo deletions of...
7.
Genc B, Zeschnigk M, Deissler H, Schmitz B, Majewski F, von Gontard A, et al.
Nucleic Acids Res
. 2000 Apr;
28(10):2141-52.
PMID: 10773084
Fragile X syndrome (FRAXA) is characterized at the molecular level by an expansion of a naturally occurring 5'-(CGG)(n)-3' repeat in the promoter and 5'-untranslated region (5'-UTR) of the fragile X...
8.
Weber P, Kuwertz-Broking E, Majewski F, Zimmer K, Bulla M
Klin Padiatr
. 2000 Mar;
212(1):31-4.
PMID: 10719681
We report on a new patient with Opitz trigonocephaly syndrome. In addition to the findings typical of this mental retardation syndrome, the present patient has retinitis pigmentosa, Caroli's syndrome and...
9.
Bartsch O, Wagner A, Hinkel G, Krebs P, Stumm M, Schmalenberger B, et al.
Eur J Hum Genet
. 1999 Nov;
7(7):748-56.
PMID: 10573006
Rubinstein-Taybi syndrome (RTS) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and short stature. Previous reports indicated that 4-25% of RTS patients have a...
10.
Quack I, Vonderstrass B, Stock M, Aylsworth A, Becker A, Brueton L, et al.
Am J Hum Genet
. 1999 Oct;
65(5):1268-78.
PMID: 10521292
Cleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other skeletal anomalies. We recently demonstrated that...