U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 23

1.
MED12 Mutation in Two Families with X-Linked Ohdo Syndrome
Luca Rocchetti, Eloisa Evangelista, Luigia De Falco, Giovanni Savarese, Pasquale Savarese, Raffaella Ruggiero, Luigi D’Amore, Alberto Sensi, Antonio Fico
Genes (Basel) 2021 Sep; 12(9): 1328. Published online 2021 Aug 27. doi: 10.3390/genes12091328
PMCID:
PMC8471817
ArticlePubReaderPDF–889KCite
2.
Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome
Bruno Galletti, Francesco Gazia, Francesco Freni, Rita Angela Nicita, Rocco Bruno, Francesco Galletti
Am J Case Rep. 2019; 20: 175–178. Published online 2019 Feb 10. doi: 10.12659/AJCR.913893
PMCID:
PMC6380205
ArticlePubReaderPDF–1.6MCite
3.
Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation
Siddaramappa J. Patil, Puneeth H. Somashekar, Anju Shukla, Satish Siddaiah, Venkatraman Bhat, Katta M. Girisha, Pooja N. Rao
J Pediatr Genet. 2017 Sep; 6(3): 198–204. Published online 2017 Apr 24. doi: 10.1055/s-0037-1602386
PMCID:
PMC5548526
ArticlePubReaderPDF–161KCite
4.
Mutations in MED12 Cause X-Linked Ohdo Syndrome
Anneke T. Vulto-van Silfhout, Bert B.A. de Vries, Bregje W.M. van Bon, Alexander Hoischen, Martina Ruiterkamp-Versteeg, Christian Gilissen, Fangjian Gao, Marloes van Zwam, Cornelis L. Harteveld, Anthonie J. van Essen, Ben C.J. Hamel, Tjitske Kleefstra, Michèl A.A.P. Willemsen, Helger G. Yntema, Hans van Bokhoven, Han G. Brunner, Thomas G. Boyer, Arjan P.M. de Brouwer
Am J Hum Genet. 2013 Mar 7; 92(3): 401–406. doi: 10.1016/j.ajhg.2013.01.007
PMCID:
PMC3591845
ArticlePubReaderPDF–554KCite
5.
Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome
Jill Clayton-Smith, James O'Sullivan, Sarah Daly, Sanjeev Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate E. Chandler, Bronwyn Kerr, May Tassabehji, Sally-Ann Lynch, Malgorzata Krajewska-Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour, Shehla Mohammed, Dian Donnai, Graeme Black
Am J Hum Genet. 2011 Nov 11; 89(5): 675–681. doi: 10.1016/j.ajhg.2011.10.008
PMCID:
PMC3213399
ArticlePubReaderPDF–538KCite
6.
The Ohdo blepharophimosis syndrome: a third case.
L G Biesecker
J Med Genet. 1991 Feb; 28(2): 131–134. doi: 10.1136/jmg.28.2.131
PMCID:
PMC1016784
SummaryPage BrowsePDF–568KCite
7.
MED12-Related (Neuro)Developmental Disorders: A Question of Causality
Stijn R. van de Plassche, Arjan P. M. de Brouwer
Genes (Basel) 2021 May; 12(5): 663. Published online 2021 Apr 28. doi: 10.3390/genes12050663
PMCID:
PMC8146938
ArticlePubReaderPDF–2.4MCite
8.
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
Mark J Hamilton, Richard C Caswell, Natalie Canham, Trevor Cole, Helen V Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury-Ecob, Soo-Mi Park, Leema Robert, Cecilie F Rustad, Emma Wakeling, Andrew O M Wilkie, The Deciphering Developmental Disorders Study, Stephen R F Twigg, Mohnish Suri
J Med Genet. 2018 Jan; 55(1): 28–38. Published online 2017 Oct 11. doi: 10.1136/jmedgenet-2017-104620
PMCID:
PMC5749303
ArticlePubReaderPDF–1.3MCite
9.
MED12 Related Disorders
John M. Graham, Jr., Charles E. Schwartz
Am J Med Genet A. Author manuscript; available in PMC 2014 Nov 1.
Published in final edited form as: Am J Med Genet A. 2013 Nov; 161(11): 10.1002/ajmg.a.36183. Published online 2013 Oct 10. doi: 10.1002/ajmg.a.36183
PMCID:
PMC3839301
ArticlePubReaderPDF–904KCite
10.
The KAT6B-related disorders Genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms
Philippe M Campeau, James T Lu, Brian C Dawson, Ivo F A C Fokkema, Stephen P Robertson, Richard A Gibbs, Brendan H Lee
Hum Mutat. Author manuscript; available in PMC 2013 Jun 29.
Published in final edited form as: Hum Mutat. 2012 Nov; 33(11): 1520–1525. Published online 2012 Jul 12. doi: 10.1002/humu.22141
PMCID:
PMC3696352
ArticlePubReaderPDF–1.9MCite
11.
Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
Philippe M. Campeau, Jaeseung C. Kim, James T. Lu, Jeremy A. Schwartzentruber, Omar A. Abdul-Rahman, Silke Schlaubitz, David M. Murdock, Ming-Ming Jiang, Edward J. Lammer, Gregory M. Enns, William J. Rhead, Jon Rowland, Stephen P. Robertson, Valérie Cormier-Daire, Matthew N. Bainbridge, Xiang-Jiao Yang, Marie-Claude Gingras, Richard A. Gibbs, David S. Rosenblatt, Jacek Majewski, Brendan H. Lee
Am J Hum Genet. 2012 Feb 10; 90(2): 282–289. doi: 10.1016/j.ajhg.2011.11.023
PMCID:
PMC3276659
ArticlePubReaderPDF–1.1MCite
12.
Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth.
S Ohdo, H Madokoro, T Sonoda, K Hayakawa
J Med Genet. 1986 Jun; 23(3): 242–244. doi: 10.1136/jmg.23.3.242
PMCID:
PMC1049635
SummaryPage BrowsePDF–669KCite
13.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer
Am J Med Genet A. 2023 Jan; 191(1): 135–143. Published online 2022 Oct 22. doi: 10.1002/ajmg.a.63004
PMCID:
PMC10092556
ArticlePubReaderPDF–1.8MCite
14.
Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton–Brown–Rahman syndrome and Say–Barber –Biesecker–Young–Simpson variant of ohdo syndrome
Sunha Park, Jaewon Kim, Tae-Young Song, Dae-Hyun Jang
Front Genet. 2022; 13: 903199. Published online 2022 Aug 3. doi: 10.3389/fgene.2022.903199
PMCID:
PMC9382078
ArticlePubReaderPDF–1.6MCite
15.
A novel nonsense variant in MED12 associated with malformations in a female fetus
Soren Lejsted Faergeman, Naja Becher, Lotte Andreasen, Marianne Christiansen, Lise Frost, Ida Vogel
Clin Case Rep. 2021 Dec; 9(12): e05124. Published online 2021 Dec 22. doi: 10.1002/ccr3.5124
PMCID:
PMC8693823
ArticlePubReaderPDF–736KCite
16.
Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome
Jessica Merritt, Joseph C Hart, Tracy L LeGrow
BMJ Case Rep. 2017; 2017: bcr2017219930. Published online 2017 Jul 14. doi: 10.1136/bcr-2017-219930
PMCID:
PMC5534731
ArticlePubReaderPDF–1.0MCite
17.
Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family
Yong Rok Kim, Jong Bum Park, Yung Jin Lee, Mi Jin Hong, Hyeong Tae Kim, Hyon J. Kim
Ann Rehabil Med. 2017 Jun; 41(3): 505–510. Published online 2017 Jun 29. doi: 10.5535/arm.2017.41.3.505
PMCID:
PMC5532359
ArticlePubReaderPDF–1.5MCite
18.
De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome
Malene Lundsgaard, Vang Q. Le, Anja Ernst, Hans C. Laugaard-Jacobsen, Kirsten Rasmussen, Inge S. Pedersen, Michael B. Petersen
Mol Syndromol. 2017 Jan; 8(1): 24–29. Published online 2016 Nov 5. doi: 10.1159/000452258
PMCID:
PMC5260604
ArticlePubReaderPDF–176KCite
19.
An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature
Katrin Õunap, Sander Pajusalu, Olga Zilina, Tiia Reimand, Riina Žordania
Clin Case Rep. 2016 Aug; 4(8): 824–830. Published online 2016 Jul 22. doi: 10.1002/ccr3.632
PMCID:
PMC4974439
ArticlePubReaderPDF–726KCite
20.
A new recognisable syndrome in three sibs with congenital heart disease, round face with depressed nasal bridge, short stature, and developmental retardation.
T Sonoda, S Ohdo, H Madokoro, K Ohba
J Med Genet. 1988 Oct; 25(10): 711–713. doi: 10.1136/jmg.25.10.711
PMCID:
PMC1051567
SummaryPage BrowsePDF–716KCite

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center