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Items: 1 to 20 of 103

1.

Fryns syndrome with atypical findings--with large midline cleft on forehead but normal cranial MRI findings.

Demirel G, Oguz SS, Celik IH, Yilmaz Y, Uras N, Erdeve O, Dilmen U.

Genet Couns. 2010;21(4):405-9.

PMID:
21290970
2.

A case of Fryns syndrome without diaphragmatic hernia and review of the literature.

Vasudevan PC, Stewart H.

Clin Dysmorphol. 2004 Jul;13(3):179-82.

PMID:
15194956
3.

Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.

Alessandri JL, Cuillier F, Malan V, Brayer C, Grondard M, Jacquemot-Dekkak L, Kieffer-Traversier M, Pierre F, Laurain C, Samperiz S, Tiran-Rajaofera I, Ramful D.

Am J Med Genet A. 2014 Mar;164A(3):648-54. doi: 10.1002/ajmg.a.36323. Epub 2013 Dec 19.

PMID:
24357154
4.

Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.

Leonardi ML, Pai GS, Wilkes B, Lebel RR.

Am J Med Genet. 2001 Aug 15;102(3):237-42. Review.

PMID:
11484200
5.

Fryns syndrome: a lethal birth defect with variable phenotypic expressions in siblings.

Arora K, Thukral A, Das RR, Gupta N, Kabra M, Agarwal R.

Indian J Pediatr. 2014 Jun;81(6):614-6. doi: 10.1007/s12098-013-1011-1. Epub 2013 Apr 19.

PMID:
23604607
6.

Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins.

Pratap A, Agrawal A, Raja S, Khaniya S, Tiwari A, Kumar A.

Singapore Med J. 2007 Apr;48(4):e106-8.

7.

Atypical Fryns syndrome: clinical, radiological and pathological findings.

Aygün MS, Sekmenli T, Çiftçi İ, Gökmen Z, Tolu İ, Mutlu-Aygün F.

Turk J Pediatr. 2014 Jan-Feb;56(1):107-10.

PMID:
24827959
8.

Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia.

Aboud MJ, Al-Shamsy MM.

Pediatr Surg Int. 2011 Jun;27(6):567-71. doi: 10.1007/s00383-010-2831-y.

PMID:
21259013
9.

G syndrome: a review of the literature and a case report.

Bershof JF, Guyuron B, Olsen MM.

J Craniomaxillofac Surg. 1992 Jan;20(1):24-7. Review.

PMID:
1564117
10.
11.

Pallister-Killian and Fryns syndromes: nosology.

McPherson EW, Ketterer DM, Salsburey DJ.

Am J Med Genet. 1993 Aug 15;47(2):241-5.

PMID:
8213912
12.

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.

Bamforth JS, Leonard CO, Chodirker BN, Chitayat D, Gritter HL, Evans JA, Keena B, Pantzar T, Friedman JM, Hall JG.

Am J Med Genet. 1989 Jan;32(1):93-9.

PMID:
2650550
13.

Unusual facial cleft in Fryns syndrome: defect of stomodeum?

Girisha KM, Bhat P, Adiga PK, Pai AH, Rai L.

Genet Couns. 2010;21(2):233-6.

PMID:
20681225
14.

Ocular findings in Fryns syndrome.

Cursiefen C, Schlötzer-Schrehardt U, Holbach LM, Vieth M, Kuchelmeister K, Stolte M.

Acta Ophthalmol Scand. 2000 Dec;78(6):710-3.

15.

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;16(4):363-70. Review.

PMID:
16440878
16.

Fryns syndrome: a case associated with karyotype XO.

Dawani NM, Al Madhoob AR, Ali FA, Shabib F.

Ann Saudi Med. 2004 Mar-Apr;24(2):129-32. No abstract available.

17.

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;76(3):210-3.

PMID:
16498629
18.

Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemidiaphragmatic agenesis.

Davis C, Samarakkody U.

J Paediatr Child Health. 2002 Jun;38(3):318-20.

PMID:
12047706
19.

Documentation of anomalies not previously described in Fryns syndrome.

Arnold SR, Debich-Spicer D D, Opitz JM, Gilbert-Barness E.

Am J Med Genet A. 2003 Jan 15;116A(2):179-82; discussion 183.

PMID:
12494439
20.

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW, Jennings R, Manning S, Boyd TK, Fryns JP, Holmes LB, Donahoe PK, Lee C, Kimonis V, Pober BR.

Am J Med Genet A. 2006 Jan 1;140(1):17-23. doi: 10.1002/ajmg.a.31025. Erratum in: Am J Med Genet A. 2006 May 1;140(9):1031. Blaise, F [added].

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