101 related articles for article (PubMed ID: 27300081)
1. Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity.
Thompson MD; Cole DE
Hum Mutat; 2016 Jul; 37(7):621. PubMed ID: 27300081
[No Abstract] [Full Text] [Related]
2. Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
McInerney-Leo AM; Harris JE; Gattas M; Peach EE; Sinnott S; Dudding-Byth T; Rajagopalan S; Barnett CP; Anderson LK; Wheeler L; Brown MA; Leo PJ; Wicking C; Duncan EL
Hum Mutat; 2016 Jul; 37(7):695-702. PubMed ID: 27038415
[TBL] [Abstract][Full Text] [Related]
3. Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.
Alessandri JL; Gordon CT; Jacquemont ML; Gruchy N; Ajeawung NF; Benoist G; Oufadem M; Chebil A; Duffourd Y; Dumont C; Gérard M; Kuentz P; Jouan T; Filippini F; Nguyen TTM; Alibeu O; Bole-Feysot C; Nitschké P; Omarjee A; Ramful D; Randrianaivo H; Doray B; Faivre L; Amiel J; Campeau PM; Thevenon J
Eur J Hum Genet; 2018 Mar; 26(3):340-349. PubMed ID: 29330547
[TBL] [Abstract][Full Text] [Related]
4. Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.
Reynolds KK; Juusola J; Rice GM; Giampietro PF
Am J Med Genet A; 2017 Oct; 173(10):2776-2781. PubMed ID: 28817240
[TBL] [Abstract][Full Text] [Related]
5. Craniorachischisis Totalis with Congenital Diaphragmatic Hernia-A Rare Presentation of Fryns Syndrome.
Singh A; Pilli GS; Bannur H
Fetal Pediatr Pathol; 2016; 35(3):192-8. PubMed ID: 27064748
[TBL] [Abstract][Full Text] [Related]
6. 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; 56(1):107-10. PubMed ID: 24827959
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 2650550
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 23604607
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 16440878
[TBL] [Abstract][Full Text] [Related]
10. Prenatal and postnatal findings in five cases of Fryns syndrome.
Peron A; Bedeschi MF; Fabietti I; Baffero GM; Fogliani R; Ciralli F; Mosca F; Rizzuti T; Leva E; Lalatta F
Prenat Diagn; 2014 Dec; 34(12):1227-30. PubMed ID: 24996149
[No Abstract] [Full Text] [Related]
11. 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. PubMed ID: 21290970
[TBL] [Abstract][Full Text] [Related]
12. 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.
Moerman P; Fryns JP; Vandenberghe K; Devlieger H; Lauweryns JM
Am J Med Genet; 1988 Dec; 31(4):805-14. PubMed ID: 3239572
[TBL] [Abstract][Full Text] [Related]
13. Fryns syndrome with vertebral defects: a novel association in a Mexican infant.
Salinas-Torres VM; Rivera H
Genet Couns; 2014; 25(1):29-33. PubMed ID: 24783652
[TBL] [Abstract][Full Text] [Related]
14. Prospective ultrasound diagnosis of Pallister-Killian syndrome in the second trimester of pregnancy: the importance of the fetal facial profile.
Paladini D; Borghese A; Arienzo M; Teodoro A; Martinelli P; Nappi C
Prenat Diagn; 2000 Dec; 20(12):996-8. PubMed ID: 11113913
[TBL] [Abstract][Full Text] [Related]
15. Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.
Ronzoni L; Boito S; Meossi C; Cesaretti C; Rinaldi B; Agolini E; Rizzuti T; Pezzoli L; Silipigni R; Novelli A; Iascone M; Persico N; Natacci F
Prenat Diagn; 2022 Nov; 42(12):1493-1502. PubMed ID: 35788948
[TBL] [Abstract][Full Text] [Related]
16. Skeletal manifestations in Fryns syndrome.
Tsukahara M; Sase M; Tateishi H; Saito T; Kato H; Furukawa S
Am J Med Genet; 1995 Jan; 55(2):217-20. PubMed ID: 7717421
[TBL] [Abstract][Full Text] [Related]
17. Pallister-Killian and Fryns syndromes: nosology.
McPherson EW; Ketterer DM; Salsburey DJ
Am J Med Genet; 1993 Aug; 47(2):241-5. PubMed ID: 8213912
[TBL] [Abstract][Full Text] [Related]
18. Fryns syndrome: a case associated with karyotype XO.
Dawani NM; Al Madhoob AR; Ali FA; Shabib F
Ann Saudi Med; 2004; 24(2):129-32. PubMed ID: 15323276
[No Abstract] [Full Text] [Related]
19. 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. PubMed ID: 17384863
[TBL] [Abstract][Full Text] [Related]
20. 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; 53(2):176-81. PubMed ID: 7856644
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]