1 |
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
61
|
Chevarin M...Faivre L
|
32277047 |
2020 |
2 |
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
61
|
Rubinato E...Marlin S
|
31536828 |
2020 |
3 |
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
61
|
Giorgio E...Brusco A
|
28027854 |
2017 |
4 |
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
61
|
Caro-Llopis A...Martinez F
|
27500536 |
2016 |
5 |
Two male sibs with severe micrognathia and a missense variant in MED12.
61
|
Prescott TE...Stray-Pedersen A
|
27286923 |
2016 |
6 |
Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia.
61
|
Khan A...Ayub M
|
27980443 |
2016 |
7 |
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
61
|
Hackmann K...Di Donato N
|
26358559 |
2016 |
8 |
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
61
|
Isidor B...David A
|
24715367 |
2014 |
9 |
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome.
61
|
Dieckmann PM...Barsottini OG
|
23338167 |
2013 |
10 |
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
61
|
du Souich C...Boerkoel CF
|
19842190 |
2009 |
11 |
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
61
|
Schwartz CE...Stevenson RE
|
17369503 |
2007 |
12 |
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.
61
|
Lerma-Carrillo I...Lopez-Munoz F
|
17036352 |
2006 |
13 |
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report.
61
|
Williams MS
|
17103446 |
2006 |
14 |
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome.
61
|
Alonso P...Vallejo J
|
16760741 |
2006 |
15 |
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
61
|
Van Buggenhout G...Fryns JP
|
16831221 |
2006 |
16 |
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms.
61
|
Purandare KN...Markar TN
|
16094260 |
2005 |
17 |
[Syndromic autism: II. Genetic syndromes associated with autism].
61
|
Artigas-Pallares J...Guitart-Feliubadalo M
|
15736079 |
2005 |
18 |
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome.
61
|
Stathopulu E...Flinter FA
|
12784307 |
2003 |
19 |
Preserved neurobehavioral abilities in Lujan-Fryns syndrome.
61
|
Donders J...van Doornik S
|
11807907 |
2002 |
20 |
[Lujan-Fryns syndrome].
61
|
Izumikawa Y
|
11528648 |
2001 |
21 |
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).
61
|
Van Buggenhout GJ...Fryns J
|
11334618 |
2001 |
22 |
Aortic root dilation in apparent Lujan-Fryns syndrome.
61
|
Wittine LM...Williams MS
|
10508979 |
1999 |
23 |
Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge.
61
|
Megarbane A...Chammas C
|
9327261 |
1997 |
24 |
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia.
61
|
De Hert M...Peuskens J
|
8723050 |
1996 |
25 |
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.
61
|
Lacombe D...Battin J
|
8267926 |
1993 |
26 |
X-linked mental retardation with marfanoid habitus: first report of four Italian patients.
61
|
Lalatta F...Neri G
|
2018063 |
1991 |
27 |
A girl with the Lujan-Fryns syndrome.
61
|
Gurrieri F...Neri G
|
2018074 |
1991 |