Literature DB >> 3585941

Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.

J P Fryns.   

Abstract

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Year:  1987        PMID： 3585941      PMCID： PMC1050049          DOI： 10.1136/jmg.24.5.271

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities.

Authors:  J P Fryns; F Moerman; P Goddeeris; C Bossuyt; H Van den Berghe
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

2.  A case of Fryns syndrome.

Authors:  I D Young; K Simpson; R M Winter
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

3.  Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome.

Authors:  M Lubinsky; C Severn; J M Rapoport
Journal:  Am J Med Genet       Date:  1983-03

4.  Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome.

Authors:  P Goddeeris; J P Fryns; H van den Berghe
Journal:  J Genet Hum       Date:  1980-03

5.  The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance.

Authors:  P Meinecke; J P Fryns
Journal:  Clin Genet       Date:  1985-12       Impact factor: 4.438
  5 in total
  9 in total

1.  Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree.

Authors:  S J Mitchell; T Cole; D H Redford
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant.

Authors:  D J Aughton; C T Sloan; M P Milad; T E Huang; C Michael; C Harper
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

3.  Fryns syndrome.

Authors:  N Fitch
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318

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

Authors:  Kamaldeep Arora; Anu Thukral; Rashmi Ranjan Das; Neerja Gupta; Madhulika Kabra; Ramesh Agarwal
Journal:  Indian J Pediatr       Date:  2013-04-19       Impact factor: 1.967

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

Authors:  S Kantarci; D Casavant; C Lee; V Kimonis; B R Pober; C Prada; M Russell; J Byrne; L Wilkins Haug; R Jennings; S Manning; T K Boyd; J P Fryns; L B Holmes; P K Donahoe
Journal:  Am J Med Genet A       Date:  2006-01-01       Impact factor: 2.802

6.  Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?

Authors:  Melissa A Parisi; Hatem Zayed; Anne M Slavotinek; Joe C Rutledge
Journal:  Am J Med Genet A       Date:  2009-06       Impact factor: 2.802

Review 7.  Genetic aspects of human congenital diaphragmatic hernia.

Authors:  B R Pober
Journal:  Clin Genet       Date:  2008-05-28       Impact factor: 4.438

8.  Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?

Authors:  L I al-Gazali; D Donnai; R F Mueller
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

9.  Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

Authors:  Jean-Luc Alessandri; Christopher T Gordon; Marie-Line Jacquemont; Nicolas Gruchy; Norbert F Ajeawung; Guillaume Benoist; Myriam Oufadem; Asma Chebil; Yannis Duffourd; Coralie Dumont; Marion Gérard; Paul Kuentz; Thibaud Jouan; Francesca Filippini; Thi Tuyet Mai Nguyen; Olivier Alibeu; Christine Bole-Feysot; Patrick Nitschké; Asma Omarjee; Duksha Ramful; Hanitra Randrianaivo; Bérénice Doray; Laurence Faivre; Jeanne Amiel; Philippe M Campeau; Julien Thevenon
Journal:  Eur J Hum Genet       Date:  2018-01-12       Impact factor: 4.246
  9 in total

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