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1989 1
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Page 1
VACTERL/VATER Association.
Solomon BD. Solomon BD. Orphanet J Rare Dis. 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. Orphanet J Rare Dis. 2011. PMID: 21846383 Free PMC article. Review.
This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome, deletion 22q11.2 syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral syndrome, Opitz G/BBB …
This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome, deletion 22q11.2 s …
Fryns syndrome: a review of the phenotype and diagnostic guidelines.
Slavotinek AM. Slavotinek AM. Am J Med Genet A. 2004 Feb 1;124A(4):427-33. doi: 10.1002/ajmg.a.20381. Am J Med Genet A. 2004. PMID: 14735597 Review.
Fryns syndrome (FS) is the commonest autosomal recessive syndrome associated with congenital diaphragmatic hernia (CDH) and comprises CDH, pulmonary hypoplasia, craniofacial anomalies, distal limb hypoplasia, and internal malformations. ...
Fryns syndrome (FS) is the commonest autosomal recessive syndrome associated with congenital diaphragmatic hernia (CDH) and co
MED12 related disorders.
Graham JM Jr, Schwartz CE. Graham JM Jr, et al. Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10. Am J Med Genet A. 2013. PMID: 24123922 Free PMC article. Review.
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. Alessandri L, et al. Genet Couns. 2005;16(4):363-70. Genet Couns. 2005. PMID: 16440878 Review.
Diaphragmatic hernia is a leading diagnostic feature in Fryns syndrome, recorded in more than 80% of cases. We report a newborn with clinical features of Fryns syndrome except the diaphragmatic hernia. Cases of Fryns syndrome without diap …
Diaphragmatic hernia is a leading diagnostic feature in Fryns syndrome, recorded in more than 80% of cases. We report a newbor …
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.
Lerma-Carrillo I, Molina JD, Cuevas-Duran T, Julve-Correcher C, Espejo-Saavedra JM, Andrade-Rosa C, Lopez-Muñoz F. Lerma-Carrillo I, et al. Am J Med Genet A. 2006 Dec 15;140(24):2807-11. doi: 10.1002/ajmg.a.31503. Am J Med Genet A. 2006. PMID: 17036352 Review.
We report on two new patients, the propositus and his maternal uncle, with Lujan-Fryns syndrome (LFS). One presented with mild mental retardation and both patient had Marfanoid habitus and similar craniofacial anomalies (they had a long and narrow face, small mandib …
We report on two new patients, the propositus and his maternal uncle, with Lujan-Fryns syndrome (LFS). One presented with mild …
Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?
Lin AE, Pober BR, Mullen MP, Slavotinek AM. Lin AE, et al. Am J Med Genet A. 2005 Dec 15;139(3):186-93. doi: 10.1002/ajmg.a.31023. Am J Med Genet A. 2005. PMID: 16283673 Review.
Twelve patients reported as having Fryns syndrome with atypical features (Group III) were also analyzed. ...The possible association between conotruncal CVMs and Fryns syndrome may provide additional support for an etiologic role of genes related to ne …
Twelve patients reported as having Fryns syndrome with atypical features (Group III) were also analyzed. ...The possible assoc …
MED12-Related (Neuro)Developmental Disorders: A Question of Causality.
Plassche SV, Brouwer AP. Plassche SV, et al. Genes (Basel). 2021 Apr 28;12(5):663. doi: 10.3390/genes12050663. Genes (Basel). 2021. PMID: 33925166 Free PMC article. Review.
MED12 is a member of the Mediator complex that is involved in the regulation of transcription. Missense variants in MED12 cause FG syndrome, Lujan-Fryns syndrome, and Ohdo syndrome, as well as non-syndromic intellectual disability (ID) in hemizygous males. ...
MED12 is a member of the Mediator complex that is involved in the regulation of transcription. Missense variants in MED12 cause FG syndrome, …
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
Van Buggenhout G, Fryns JP. Van Buggenhout G, et al. Orphanet J Rare Dis. 2006 Jul 10;1:26. doi: 10.1186/1750-1172-1-26. Orphanet J Rare Dis. 2006. PMID: 16831221 Free PMC article. Review.
The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. ...
The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental …
Fryns syndrome: report on 8 new cases.
Aymé S, Julian C, Gambarelli D, Mariotti B, Luciani A, Sudan N, Maurin N, Philip N, Serville F, Carles D, et al. Aymé S, et al. Clin Genet. 1989 Mar;35(3):191-201. doi: 10.1111/j.1399-0004.1989.tb02927.x. Clin Genet. 1989. PMID: 2650934 Review.
The name Fryns syndrome was given to a new variable multiple congenital anomaly syndrome, almost always lethal, described in 1978, and now known to be autosomal recessive. ...It is to be expected that prenatal diagnosis will be made often and earlier in the future, …
The name Fryns syndrome was given to a new variable multiple congenital anomaly syndrome, almost always lethal, described in 1 …
Fryns syndrome: a new definition.
Pinar H, Carpenter MW, Abuelo D, Singer DB. Pinar H, et al. Pediatr Pathol. 1994 May-Jun;14(3):467-78. doi: 10.3109/15513819409024276. Pediatr Pathol. 1994. PMID: 8066003 Review.
Fryns syndrome is a lethal, autosomal recessive syndrome of multiple congenital anomalies described by Fitch et al. in 1978 and Fryns et al. in 1979. ...We conclude that central nervous system anomalies and congenital heart disease should be added to the major diagn
Fryns syndrome is a lethal, autosomal recessive syndrome of multiple congenital anomalies described by Fitch et al. in 1978 an
30 results