PMC Articles for MedGen (Select 785805) - PMC

Select item 84718171.

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

Article PDF–889K

Select item 55485262.

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

Article PDF–161K

Select item 35918453.

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

Article PDF–554K

Select item 38393014.

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

Article PDF–904K

Select item 81469385.

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

Article PDF–2.4M

Select item 64656566.

Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders

Siddharth Srivastava, Tejasvi Niranjan, Melanie M. May, Patrick Tarpey, William Allen, Anna Hackett, Pierre‐Simon Jouk, Lucy Raymond, Slyvain Briault, Cindy Skinner, Annick Toutain, Jozef Gecz, William Heath, Roger E. Stevenson, Charles E. Schwartz, Tao Wang

Mol Genet Genomic Med. 2019 Apr; 7(4): e00569. Published online 2019 Feb 6. doi: 10.1002/mgg3.569

PMCID:: PMC6465656

Article PDF–875K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 6

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity