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2. Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. Cunniff C, Jones KL, Saal HM, Stern HJ. Pediatrics; 1990 Apr; 85(4):499-504. PubMed ID: 2314962 [Abstract] [Full Text] [Related]
3. Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome. Rodríguez JI, Garcia I, Alvarez J, Delicado A, Palacios J. Am J Med Genet; 1994 Nov 01; 53(2):176-81. PubMed ID: 7856644 [Abstract] [Full Text] [Related]
4. Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22. de Beaufort C, Schneider F, Chafai R, Colette JM, Delneste D, Pierquin G. Genet Couns; 2000 Nov 01; 11(2):181-2. PubMed ID: 10893671 [No Abstract] [Full Text] [Related]
5. Pallister-Killian and Fryns syndromes: nosology. McPherson EW, Ketterer DM, Salsburey DJ. Am J Med Genet; 1993 Aug 15; 47(2):241-5. PubMed ID: 8213912 [Abstract] [Full Text] [Related]
6. Complete trisomy 9. Two additional cases. Delicado A, Iñiguez L, Lopez Pajares I, Omeñaca F. Ann Genet; 1985 Aug 15; 28(1):63-6. PubMed ID: 3874593 [Abstract] [Full Text] [Related]
8. Partial trisomy 17p12pter, associated with pre and postnatal growth retardation, dysmorphic facial and digital features, developmental delay, and signs of HMSN1 in early childhood. Vogt J, Hill S, Brueton L. Eur J Med Genet; 2006 Aug 15; 49(5):439-43. PubMed ID: 16488202 [No Abstract] [Full Text] [Related]
9. Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia. Hatem E, Meriam BR, Walid D, Adenen M, Moez G, Ali S. Prenat Diagn; 2007 May 15; 27(5):471-4. PubMed ID: 17380471 [Abstract] [Full Text] [Related]
11. Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. Alessandri L, Brayer C, Attali T, Samperiz S, Tiran-Rajaofera I, Ramful D, Pilorget H. Genet Couns; 2005 May 15; 16(4):363-70. PubMed ID: 16440878 [Abstract] [Full Text] [Related]
12. Partial trisomy 1 (q42 leads to ter). Leisti J, Aula P. Clin Genet; 1980 Nov 15; 18(5):371-8. PubMed ID: 7460373 [Abstract] [Full Text] [Related]
13. [Fryns syndrome. Report on 3 new cases]. Alessandri JL, Attali T, Brayer C, Dupuy L, Pilorget H, Ramful D, Samperiz S, Tiran-Rajaofera I, Robin S. Arch Pediatr; 2007 Jul 15; 14(7):903-7. PubMed ID: 17442547 [Abstract] [Full Text] [Related]
14. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype. Beaujard MP, Jouannic JM, Bessières B, Borie C, Martin-Luis I, Fallet-Bianco C, Portnoï MF. Prenat Diagn; 2005 Jun 15; 25(6):451-5. PubMed ID: 15966060 [Abstract] [Full Text] [Related]
15. Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia. Casaccia G, Mobili L, Braguglia A, Santoro F, Bagolan P. Birth Defects Res A Clin Mol Teratol; 2006 Mar 15; 76(3):210-3. PubMed ID: 16498629 [Abstract] [Full Text] [Related]
16. Fryns syndrome survivors and neurologic outcome. Van Hove JL, Spiridigliozzi GA, Heinz R, McConkie-Rosell A, Iafolla AK, Kahler SG. Am J Med Genet; 1995 Nov 20; 59(3):334-40. PubMed ID: 8599357 [Abstract] [Full Text] [Related]
17. Trisomy 22: no longer an enigma. Kukolich MK, Kulharya A, Jalal SM, Drummond-Borg M. Am J Med Genet; 1989 Dec 20; 34(4):541-4. PubMed ID: 2624265 [Abstract] [Full Text] [Related]
18. [Coffin-Siris syndrome. Critical study of the literature apropos of a case]. Foasso MF, Hermier M, Descos B, Collet JP, Perron F. Pediatrie; 1983 Mar 20; 38(2):111-7. PubMed ID: 6622139 [Abstract] [Full Text] [Related]
19. Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation. Webb AL, Sturgiss S, Warwicker P, Robson SC, Goodship JA, Wolstenholme J. Prenat Diagn; 1996 Oct 20; 16(10):958-62. PubMed ID: 8938070 [Abstract] [Full Text] [Related]
20. Trisomy 16 confined to chorionic villi and unfavourable outcome of pregnancy. Simoni G, Brambati B, Maggi F, Jackson L. Ann Genet; 1992 Oct 20; 35(2):110-2. PubMed ID: 1524407 [Abstract] [Full Text] [Related] Page: [Next] [New Search]