1 |
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation.
62
5
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Ding N...Boyer TG
|
18691967 |
2008 |
2 |
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
62
5
|
Schwartz CE...Stevenson RE
|
17369503 |
2007 |
3 |
A form of X-linked mental retardation with marfanoid habitus.
62
5
|
Lujan JE...Lubs HA
|
6711603 |
1984 |
4 |
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
62
|
Maia N...de Brouwer APM
|
36271811 |
2022 |
5 |
Eye and ocular adnexa manifestations of MED12-related disorders.
62
|
Shah A...Couser NL
|
34670449 |
2022 |
6 |
A novel nonsense variant in MED12 associated with malformations in a female fetus.
62
|
Faergeman SL...Vogel I
|
34987808 |
2021 |
7 |
MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.
62
|
Rocchetti L...Fico A
|
34573309 |
2021 |
8 |
MED12-Related (Neuro)Developmental Disorders: A Question of Causality.
62
|
Plassche SV...Brouwer AP
|
33925166 |
2021 |
9 |
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.
62
|
Li D...Bhoj E
|
33244166 |
2021 |
10 |
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
62
|
Chevarin M...Faivre L
|
32277047 |
2020 |
11 |
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
62
|
Rubinato E...Marlin S
|
31536828 |
2020 |
12 |
Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report.
62
|
Genis B...Cosar B
|
32978958 |
2020 |
13 |
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.
62
|
Srivastava S...Wang T
|
30729724 |
2019 |
14 |
A novel variant in MED12 gene: Further delineation of phenotype.
62
|
Narayanan DL...Phadke SR
|
28544239 |
2017 |
15 |
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
62
|
Giorgio E...Brusco A
|
28027854 |
2017 |
16 |
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
62
|
Caro-Llopis A...Martinez F
|
27500536 |
2016 |
17 |
Two male sibs with severe micrognathia and a missense variant in MED12.
62
|
Prescott TE...Stray-Pedersen A
|
27286923 |
2016 |
18 |
Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia.
62
|
Khan A...Ayub M
|
27980443 |
2016 |
19 |
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
62
|
Hackmann K...Di Donato N
|
26358559 |
2016 |
20 |
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
62
|
Isidor B...David A
|
24715367 |
2014 |
21 |
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
62
|
Lesca G...Lespinasse J
|
24039113 |
2013 |
22 |
MED12 related disorders.
62
|
Graham JM...Schwartz CE
|
24123922 |
2013 |
23 |
MED12 mutations in human diseases.
62
|
Wang H...Ye J
|
23836153 |
2013 |
24 |
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome.
62
|
Dieckmann PM...Barsottini OG
|
23338167 |
2013 |
25 |
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
62
|
du Souich C...Boerkoel CF
|
19842190 |
2009 |
26 |
MED12-Related Disorders
62
|
Lyons MJ
|
20301719 |
2008 |
27 |
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report.
62
|
Williams MS
|
17103446 |
2006 |
28 |
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.
62
|
Lerma-Carrillo I...Lopez-Munoz F
|
17036352 |
2006 |
29 |
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
62
|
Van Buggenhout G...Fryns JP
|
16831221 |
2006 |
30 |
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome.
62
|
Alonso P...Vallejo J
|
16760741 |
2006 |
31 |
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms.
62
|
Purandare KN...Markar TN
|
16094260 |
2005 |
32 |
[Syndromic autism: II. Genetic syndromes associated with autism].
62
|
Artigas-Pallares J...Guitart-Feliubadalo M
|
15736079 |
2005 |
33 |
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome.
62
|
Stathopulu E...Flinter FA
|
12784307 |
2003 |
34 |
Preserved neurobehavioral abilities in Lujan-Fryns syndrome.
62
|
Donders J...van Doornik S
|
11807907 |
2002 |
35 |
[Lujan-Fryns syndrome].
62
|
Izumikawa Y
|
11528648 |
2001 |
36 |
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).
62
|
Van Buggenhout GJ...Fryns J
|
11334618 |
2001 |
37 |
Aortic root dilation in apparent Lujan-Fryns syndrome.
62
|
Wittine LM...Williams MS
|
10508979 |
1999 |
38 |
Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge.
62
|
Megarbane A...Chammas C
|
9327261 |
1997 |
39 |
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia.
62
|
De Hert M...Peuskens J
|
8723050 |
1996 |
40 |
Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression.
62
|
Dotti MT...Federico A
|
8250152 |
1993 |
41 |
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.
62
|
Lacombe D...Battin J
|
8267926 |
1993 |
42 |
Lujan syndrome in a Mexican boy.
62
|
Rivera H...Garcia-Ochoa C
|
1605262 |
1992 |
43 |
X-linked mental retardation with marfanoid habitus.
62
|
Fryns JP
|
2018064 |
1991 |
44 |
A girl with the Lujan-Fryns syndrome.
62
|
Gurrieri F...Neri G
|
2018074 |
1991 |
45 |
X-linked mental retardation with marfanoid habitus: first report of four Italian patients.
62
|
Lalatta F...Neri G
|
2018063 |
1991 |
46 |
X-linked mental retardation with Marfanoid habitus: a changing phenotype with age?
62
|
Fryns JP...Van Den Berghe H
|
1799424 |
1991 |
47 |
[Chromosome X-linked mental retardation and marfanoid syndrome].
62
|
Fryns JP...van den Berghe H
|
3379374 |
1988 |
48 |
X-linked mental retardation with marfanoid habitus.
62
|
Fryns JP...Buttiens M
|
3322000 |
1987 |