Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 2
1992 1
1993 1
1996 1
1997 1
1999 1
2001 1
2002 1
2003 1
2005 1
2006 4
2007 1
2008 1
2009 1
2013 4
2014 1
2015 1
2016 5
2017 2
2018 1
2019 2
2020 4
2021 3
2022 2
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

38 results

Results by year

Filters applied: . Clear all
Page 1
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.
To date, these conditions include Opitz-Kaveggia (FG) syndrome, Lujan syndrome, Ohdo syndrome (Maat-Kievit-Brunner type, or OSMKB), and one large family with profound X-linked intellectual disability due to a novel c.5898insC frameshift mutation that unlike the othe …
To date, these conditions include Opitz-Kaveggia (FG) syndrome, Lujan syndrome, Ohdo syndrome (Maat-Kievit-Brunner type, or OS …
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 …
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 …
We report on two new patients, the propositus and his maternal uncle, with Lujan-Fryns syndrome (LFS). One presented wi …
Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report.
Geniş B, Şahin F, Coşar B. Geniş B, et al. Turk Psikiyatri Derg. 2020 Fall;31(3):216-220. doi: 10.5080/u23940. Turk Psikiyatri Derg. 2020. PMID: 32978958 Free article. English, Turkish.
Lujan-Fryns Syndrome (LFS) is defined as a set of symptoms including mild-moderate mental retardation, marfanoid appearance, hypotonia at birth, hypernasal speech, characteristic craniofacial appearance and normal testis size. ...
Lujan-Fryns Syndrome (LFS) is defined as a set of symptoms including mild-moderate mental retardation, marfanoid appear …
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N. Hackmann K, et al. Am J Med Genet A. 2016 Jan;170A(1):94-102. doi: 10.1002/ajmg.a.37378. Epub 2015 Sep 11. Am J Med Genet A. 2016. PMID: 26358559
The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. ...
The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid h …
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, …
MED12 mutations in human diseases.
Wang H, Shen Q, Ye LH, Ye J. Wang H, et al. Protein Cell. 2013 Sep;4(9):643-6. doi: 10.1007/s13238-013-3048-3. Protein Cell. 2013. PMID: 23836153 Free PMC article. Review.
MED12 is involved in a variety of cellular activities, and mutations in MED12 gene impair MED12 activities and are associated with several diseases, including Opitz-Kaveggia syndrome, Lujan syndrome, uterine leiomyomas and prostate cancer. This review will discuss t …
MED12 is involved in a variety of cellular activities, and mutations in MED12 gene impair MED12 activities and are associated with several d …
Eye and ocular adnexa manifestations of MED12-related disorders.
Shah A, Bapna M, Al-Saif H, Li R, Couser NL. Shah A, et al. Ophthalmic Genet. 2022 Feb;43(1):126-129. doi: 10.1080/13816810.2021.1989601. Epub 2021 Oct 20. Ophthalmic Genet. 2022. PMID: 34670449
The phenotypic spectrum of MED12-related disorders currently includes X-Linked Ohdo Syndrome, Lujan-Fryns Syndrome (LS), and FG syndrome type 1 (FG), also known as Opitz-Kaveggia Syndrome. ...
The phenotypic spectrum of MED12-related disorders currently includes X-Linked Ohdo Syndrome, Lujan-Fryns Syndrome (LS) …
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.
Srivastava S, Niranjan T, May MM, Tarpey P, Allen W, Hackett A, Jouk PS, Raymond L, Briault S, Skinner C, Toutain A, Gecz J, Heath W, Stevenson RE, Schwartz CE, Wang T. Srivastava S, et al. Mol Genet Genomic Med. 2019 Apr;7(4):e00569. doi: 10.1002/mgg3.569. Epub 2019 Feb 6. Mol Genet Genomic Med. 2019. PMID: 30729724 Free PMC article.
The Gli3-dependent Sonic Hedgehog (SHH) signaling pathway has been implicated in the original FG syndrome and Lujan syndrome. How are SHH-signaling defects related to the complex clinical phenotype of MED12-associated XLID syndromes are not fully understood. ...Pati …
The Gli3-dependent Sonic Hedgehog (SHH) signaling pathway has been implicated in the original FG syndrome and Lujan syndrome. …
Preserved neurobehavioral abilities in Lujan-Fryns syndrome.
Donders J, Toriello H, van Doornik S. Donders J, et al. Am J Med Genet. 2002 Jan 22;107(3):243-6. doi: 10.1002/ajmg.10144. Am J Med Genet. 2002. PMID: 11807907
We present a patient with all the physical characteristics of Lujan-Fryns syndrome, including Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies. ...In addition, he did not demonstrate any …
We present a patient with all the physical characteristics of Lujan-Fryns syndrome, including Marfanoid habitus, mild g …
38 results