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Fryns syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Fryns syndrome" in English language version.

refsWebsite
Global rank English rank
43nih.gov
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31doi.org
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10semanticscholar.org
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nih.gov

pubmed.ncbi.nlm.nih.gov

  • Alessandri L, Brayer C, Attali T, et al. (2005). "Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature". Genet. Couns. 16 (4): 363–70. PMID 16440878.
  • Fryns JP (May 1987). "Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia". J. Med. Genet. 24 (5): 271–4. doi:10.1136/jmg.24.5.271. PMC 1050049. PMID 3585941.
  • Clark RD, Fenner-Gonzales M (November 1989). "Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2". Am. J. Med. Genet. 34 (3): 422–6. doi:10.1002/ajmg.1320340319. PMID 2596530.
  • de Jong G, Rossouw RA, Retief AE (July 1989). "Ring chromosome 15 in a patient with features of Fryns' syndrome". J. Med. Genet. 26 (7): 469–70. doi:10.1136/jmg.26.7.469. PMC 1015654. PMID 2746621.
  • Krassikoff N, Sekhon GS (July 1990). "Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair?". Am. J. Med. Genet. 36 (3): 363–4. doi:10.1002/ajmg.1320360327. PMID 2363440.
  • Dean JC, Couzin DA, Gray ES, Lloyd DJ, Stephen GS (November 1991). "Apparent Fryns' syndrome and aneuploidy: evidence for a disturbance of the midline developmental field". Clin. Genet. 40 (5): 349–52. doi:10.1111/j.1399-0004.1991.tb03108.x. PMID 1756610. S2CID 38917050.
  • Slavotinek A, Lee SS, Davis R, et al. (September 2005). "Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1". J. Med. Genet. 42 (9): 730–6. doi:10.1136/jmg.2004.028787. PMC 1736126. PMID 16141010.
  • Aymé S, Julian C, Gambarelli D, et al. (March 1989). "Fryns syndrome: report on 8 new cases". Clin. Genet. 35 (3): 191–201. doi:10.1111/j.1399-0004.1989.tb02927.x. PMID 2650934. S2CID 22750870.
  • Manouvrier-Hanu S, Devisme L, Vaast P, Boute-Benejean O, Farriaux JP (1996). "Fryns syndrome and erupted teeth in a 24-weeks-old fetus". Genet. Couns. 7 (2): 131–4. PMID 8831132.
  • McPherson EW, Ketterer DM, Salsburey DJ (August 1993). "Pallister–Killian and Fryns syndromes: nosology". Am. J. Med. Genet. 47 (2): 241–5. doi:10.1002/ajmg.1320470219. PMID 8213912.
  • Veldman A, Schlösser R, Allendorf A, et al. (July 2002). "Bilateral congenital diaphragmatic hernia: Differentiation between Pallister–Killian and Fryns syndromes". Am. J. Med. Genet. 111 (1): 86–7. doi:10.1002/ajmg.10438. PMID 12124742.
  • Rodríguez JI, Garcia I, Alvarez J, Delicado A, Palacios J (November 1994). "Lethal Pallister–Killian syndrome: phenotypic similarity with Fryns syndrome". Am. J. Med. Genet. 53 (2): 176–81. doi:10.1002/ajmg.1320530211. PMID 7856644.
  • Slavotinek AM (February 2004). "Fryns syndrome: a review of the phenotype and diagnostic guidelines". Am. J. Med. Genet. A. 124A (4): 427–33. doi:10.1002/ajmg.a.20381. PMID 14735597. S2CID 6508544.
  • Fryns JP, Moerman F, Goddeeris P, Bossuyt C, Van den Berghe H (1979). "A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities". Hum. Genet. 50 (1): 65–70. doi:10.1007/BF00295591. PMID 381161. S2CID 31721537.
  • Goddeeris P, Fryns JP, van den Berghe H (March 1980). "Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. — a new lethal syndrome". J Genet Hum. 28 (1): 57–60. PMID 7400786.
  • Fitch N (February 1988). "Fryns syndrome". J. Med. Genet. 25 (2): 135. doi:10.1136/jmg.25.2.135. PMC 1015459. PMID 3346889.
  • Fitch N, Srolovitz H, Robitaille Y, Guttman F (October 1978). "Absent left hemidiaphragm, arhinencephaly, and cardiac malformations". J. Med. Genet. 15 (5): 399–401. doi:10.1136/jmg.15.5.399. PMC 1013741. PMID 739533.
  • Lubinsky M, Severn C, Rapoport JM (March 1983). "Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome". Am. J. Med. Genet. 14 (3): 461–6. doi:10.1002/ajmg.1320140309. PMID 6859098.
  • Meinecke P, Fryns JP (December 1985). "The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance". Clin. Genet. 28 (6): 516–20. doi:10.1111/j.1399-0004.1985.tb00419.x. PMID 4075561. S2CID 33419971.
  • Young ID, Simpson K, Winter RM (February 1986). "A case of Fryns syndrome". J. Med. Genet. 23 (1): 82–4. doi:10.1136/jmg.23.1.82. PMC 1049547. PMID 3950939.
  • Samueloff A, Navot D, Birkenfeld A, Schenker JG (January 1987). "Fryns syndrome: a predictable, lethal pattern of multiple congenital anomalies". Am. J. Obstet. Gynecol. 156 (1): 86–8. doi:10.1016/0002-9378(87)90210-9. PMID 3799773.
  • Schwyzer U, Briner J, Schinzel A (January 1987). "Fryns syndrome in a girl born to consanguineous parents". Acta Paediatr Scand. 76 (1): 167–71. doi:10.1111/j.1651-2227.1987.tb10441.x. PMID 3564997. S2CID 44256314.
  • Moerman P, Fryns JP, Vandenberghe K, Devlieger H, Lauweryns JM (December 1988). "The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome". Am. J. Med. Genet. 31 (4): 805–14. doi:10.1002/ajmg.1320310413. PMID 3239572.
  • Cunniff C, Jones KL, Saal HM, Stern HJ (April 1990). "Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia". Pediatrics. 85 (4): 499–504. doi:10.1542/peds.85.4.499. PMID 2314962. S2CID 8945636.
  • Kershisnik MM, Craven CM, Jung AL, Carey JC, Knisely AS (June 1991). "Osteochondrodysplasia in Fryns syndrome". Am. J. Dis. Child. 145 (6): 656–60. doi:10.1001/archpedi.1991.02160060074024. PMID 1903587.
  • Willems PJ, Keersmaekers GH, Dom KE, et al. (November 1991). "Fryns syndrome without diaphragmatic hernia?". Am. J. Med. Genet. 41 (2): 255–7. doi:10.1002/ajmg.1320410225. PMID 1785645.
  • Bartsch O, Meinecke P, Kamin G (October 1995). "Fryns syndrome: two further cases without lateral diaphragmatic defects". Clin. Dysmorphol. 4 (4): 352–8. doi:10.1097/00019605-199510000-00012. PMID 8574427. S2CID 45709605.
  • Bamforth JS, Leonard CO, Chodirker BN, et al. (January 1989). "Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome". Am. J. Med. Genet. 32 (1): 93–9. doi:10.1002/ajmg.1320320120. PMID 2650550.
  • Hanssen AM, Schrander-Stumpel CT, Thiry PA, Fryns JP (1992). "Fryns syndrome: another example of non-lethal outcome with severe mental handicap". Genet. Couns. 3 (4): 187–93. PMID 1472353.
  • Vargas JE, Cox GF, Korf BR (September 2000). "Discordant phenotype in monozygotic twins with Fryns syndrome". Am. J. Med. Genet. 94 (1): 42–5. doi:10.1002/1096-8628(20000904)94:1<42::AID-AJMG9>3.0.CO;2-6. PMID 10982481.
  • Riela AR, Thomas IT, Gonzalez AR, Ifft RD (March 1995). "Fryns syndrome: neurologic findings in a survivor". J. Child Neurol. 10 (2): 110–3. doi:10.1177/088307389501000208. PMID 7782599. S2CID 36966691.
  • Van Hove JL, Spiridigliozzi GA, Heinz R, McConkie-Rosell A, Iafolla AK, Kahler SG (November 1995). "Fryns syndrome survivors and neurologic outcome". Am. J. Med. Genet. 59 (3): 334–40. doi:10.1002/ajmg.1320590311. PMID 8599357.
  • Fryns JP, Moerman P (1998). "Scalp defects in Fryns syndrome". Genet. Couns. 9 (2): 153–4. PMID 9664213.
  • Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H (December 2000). "Variability in the phenotypic expression of fryns syndrome: A report of two sibships". Am. J. Med. Genet. 95 (5): 415–24. doi:10.1002/1096-8628(20001218)95:5<415::AID-AJMG2>3.0.CO;2-J. PMID 11146459.
  • Arnold SR, Debich-Spicer DD, Opitz JM, Gilbert-Barness E (January 2003). "Documentation of anomalies not previously described in Fryns syndrome". Am. J. Med. Genet. A. 116A (2): 179–82, discussion 183. doi:10.1002/ajmg.a.10763. PMID 12494439. S2CID 42523155.
  • Pierson DM, Taboada E, Butler MG (March 2004). "Eye abnormalities in Fryns syndrome". Am. J. Med. Genet. A. 125A (3): 273–7. doi:10.1002/ajmg.a.20520. PMC 6719310. PMID 14994236.

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