Fritz B - Search Results

1

Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.

Pfeifer M, Rehder H, Gerykova Bujalkova M, Bartsch C, Fritz B, Knopp C, Beckers B, Dohle F, Meyer-Wittkopf M, Axt-Fliedner R, Beribisky AV, Hofer M, Laccone F, Schoner K. Pfeifer M, et al. Among authors: fritz b. Orphanet J Rare Dis. 2024 Mar 12;19(1):114. doi: 10.1186/s13023-024-03106-z. Orphanet J Rare Dis. 2024. PMID: 38475835 Free PMC article.

2

Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of Xp.

Fritz B, Küster W, Orstavik KH, Naumova A, Spranger J, Rehder H. Fritz B, et al. Hum Genet. 1998 Oct;103(4):441-9. doi: 10.1007/s004390050848. Hum Genet. 1998. PMID: 9856488 Review.

3

Trisomy 2q35-q37 due to insertion of 2q material into 17q25: clinical, cytogenetic, and molecular cytogenetic characterization.

Fritz B, Müller-Navia J, Hillig U, Köhler M, Aslan M, Rehder H. Fritz B, et al. Am J Med Genet. 1999 Dec 3;87(4):297-301. Am J Med Genet. 1999. PMID: 10588833 Review.

4

Familial cryptic translocation with del 4q34-->qter and dup 12pter-->p13 in sibs with tracheal stenosis: clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen.

Fritz B, Greber-Platzer S, Frischer T, Streubel B, Gröblacher J, Amann G, Ventruba P, Rehder H, Fonatsch C. Fritz B, et al. Am J Med Genet. 2000 Oct 2;94(4):271-80. doi: 10.1002/1096-8628(20001002)94:4<271::aid-ajmg2>3.0.co;2-y. Am J Med Genet. 2000. PMID: 11038438

5

Variability in the phenotypic expression of fryns syndrome: A report of two sibships.

Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H. Ramsing M, et al. Among authors: fritz b. Am J Med Genet. 2000 Dec 18;95(5):415-24. doi: 10.1002/1096-8628(20001218)95:5<415::aid-ajmg2>3.0.co;2-j. Am J Med Genet. 2000. PMID: 11146459

6

Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): further delineation of trisomies 1q.

Bartsch C, Aslan M, Köhler J, Miny P, Horst J, Holzgreve W, Rehder H, Fritz B. Bartsch C, et al. Among authors: fritz b. Fetal Diagn Ther. 2001 Sep-Oct;16(5):265-73. doi: 10.1159/000053926. Fetal Diagn Ther. 2001. PMID: 11509847

7

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week.

Fritz B, Aslan M, Kalscheuer V, Ramsing M, Saar K, Fuchs B, Rehder H. Fritz B, et al. Eur J Hum Genet. 2001 Dec;9(12):910-6. doi: 10.1038/sj.ejhg.5200741. Eur J Hum Genet. 2001. PMID: 11840192

8

Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Case report and review of the literature.

Dietze I, Fritz B, Huhle D, Simoens W, Piecha E, Rehder H. Dietze I, et al. Among authors: fritz b. Fetal Diagn Ther. 2004 May-Jun;19(3):251-60. doi: 10.1159/000076707. Fetal Diagn Ther. 2004. PMID: 15067236 Review.

9

[Genetic causes of mental retardation].

Rehder H, Fritz B. Rehder H, et al. Among authors: fritz b. Wien Med Wochenschr. 2005 Jun;155(11-12):258-67. doi: 10.1007/s10354-005-0183-3. Wien Med Wochenschr. 2005. PMID: 16035386 German.

10

Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios.

Schoner K, Bald R, Fritz B, Rehder H. Schoner K, et al. Among authors: fritz b. Fetal Diagn Ther. 2008;23(3):228-32. doi: 10.1159/000116746. Epub 2008 Feb 20. Fetal Diagn Ther. 2008. PMID: 18417983

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