Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 19

1.

Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome.

Dieckmann PM, Lucena LC, Dutra LA, Pedroso JL, Barsottini OG.

Arq Neuropsiquiatr. 2013 Jan;71(1):68-9. No abstract available.

PMID:
23338167
[PubMed - indexed for MEDLINE]
Free Article
2.

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.

du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF.

Am J Med Genet A. 2009 Nov;149A(11):2469-78. doi: 10.1002/ajmg.a.33071.

PMID:
19842190
[PubMed - indexed for MEDLINE]
3.

Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation.

Ding N, Zhou H, Esteve PO, Chin HG, Kim S, Xu X, Joseph SM, Friez MJ, Schwartz CE, Pradhan S, Boyer TG.

Mol Cell. 2008 Aug 8;31(3):347-59. doi: 10.1016/j.molcel.2008.05.023.

PMID:
18691967
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE.

J Med Genet. 2007 Jul;44(7):472-7. Epub 2007 Mar 16.

PMID:
17369503
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report.

Williams MS.

Am J Med Genet A. 2006 Dec 15;140(24):2812-5. No abstract available.

PMID:
17103446
[PubMed - indexed for MEDLINE]
6.

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.

Am J Med Genet A. 2006 Dec 15;140(24):2807-11. Review.

PMID:
17036352
[PubMed - indexed for MEDLINE]
7.

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).

Van Buggenhout G, Fryns JP.

Orphanet J Rare Dis. 2006 Jul 10;1:26. Review.

PMID:
16831221
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome.

Alonso P, Pintos G, Almazan F, Hernández L, Loran E, Menchon JM, Vallejo J.

Clin Dysmorphol. 2006 Jul;15(3):181-4.

PMID:
16760741
[PubMed - indexed for MEDLINE]
9.

Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms.

Purandare KN, Markar TN.

Psychiatr Genet. 2005 Sep;15(3):229-31. No abstract available.

PMID:
16094260
[PubMed - indexed for MEDLINE]
10.

Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome.

Stathopulu E, Ogilvie CM, Flinter FA.

Am J Med Genet A. 2003 Jun 15;119A(3):363-6.

PMID:
12784307
[PubMed - indexed for MEDLINE]
11.

Preserved neurobehavioral abilities in Lujan-Fryns syndrome.

Donders J, Toriello H, van Doornik S.

Am J Med Genet. 2002 Jan 22;107(3):243-6.

PMID:
11807907
[PubMed - indexed for MEDLINE]
12.

The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).

Van Buggenhout GJ, Trommelen JC, Brunner HG, Hamel BC, Fryns J.

Ann Genet. 2001 Jan-Mar;44(1):47-55.

PMID:
11334618
[PubMed - indexed for MEDLINE]
13.

Aortic root dilation in apparent Lujan-Fryns syndrome.

Wittine LM, Josephson KD, Williams MS.

Am J Med Genet. 1999 Oct 29;86(5):405-9.

PMID:
10508979
[PubMed - indexed for MEDLINE]
14.

Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge.

Mégarbané A, Chammas C.

Genet Couns. 1997;8(3):195-200.

PMID:
9327261
[PubMed - indexed for MEDLINE]
15.

Lujan-Fryns syndrome in the differential diagnosis of schizophrenia.

De Hert M, Steemans D, Theys P, Fryns JP, Peuskens J.

Am J Med Genet. 1996 Apr 9;67(2):212-4.

PMID:
8723050
[PubMed - indexed for MEDLINE]
16.

Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.

Lacombe D, Bonneau D, Verloes A, Couet D, Koulischer L, Battin J.

Genet Couns. 1993;4(3):193-8.

PMID:
8267926
[PubMed - indexed for MEDLINE]
17.

Lujan syndrome in a Mexican boy.

Rivera H, Ramírez-Dueñas ML, García-Ochoa C.

Am J Med Genet. 1992 Jun 1;43(3):626-7. No abstract available.

PMID:
1605262
[PubMed - indexed for MEDLINE]
18.

A girl with the Lujan-Fryns syndrome.

Gurrieri F, Neri G.

Am J Med Genet. 1991 Feb-Mar;38(2-3):290-1. No abstract available.

PMID:
2018074
[PubMed - indexed for MEDLINE]
19.

X-linked mental retardation with marfanoid habitus: first report of four Italian patients.

Lalatta F, Livini E, Selicorni A, Briscioli V, Vita A, Lugo F, Zollino M, Gurrieri F, Neri G.

Am J Med Genet. 1991 Feb-Mar;38(2-3):228-32.

PMID:
2018063
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk