orofaciodigital - PMC

Yasutsugu Chinen, Sadao Nakamura, Kumiko Yanagi, Takuya Kaneshi, Hideki Goya, Tomohide Yoshida, Kazuhito Satou, Tadashi Kaname, Kenji Naritomi, Koichi Nakanishi

Hum Genome Var. 2022; 9: 9. Published online 2022 Mar 31. doi: 10.1038/s41439-022-00187-9

PMCID:: PMC8971417

Article PDF–801K

Select item 68593975.

An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns

Takashi Iijima, Noriko Hayami, Kenmei Takaichi, Naoya Morisada, Kandai Nozu, Kazumoto Iijima, Naoki Sawa, Junichi Hoshino, Yoshifumi Ubara

Intern Med. 2019 Oct 15; 58(20): 2989–2992. Published online 2019 Jun 27. doi: 10.2169/internalmedicine.2571-18

PMCID:: PMC6859397

Article PDF–792K

Select item 36565356.

Orofaciodigital syndrome type-VI (Varadi–Papp syndrome) with several Y-shaped metacarpals

Pulak R. Mahato, Shashi B. Pandey

Indian J Hum Genet. 2012 Sep-Dec; 18(3): 376–378. doi: 10.4103/0971-6866.108053

PMCID:: PMC3656535

Article PDF–388K

Select item 37699307.

Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome

Hanan E. Shamseldin, Anna Rajab, Amal Alhashem, Ranad Shaheen, Tarfa Al-Shidi, Rana Alamro, Salma Al Harassi, Fowzan S. Alkuraya

Am J Hum Genet. 2013 Sep 5; 93(3): 555–560. doi: 10.1016/j.ajhg.2013.07.012

PMCID:: PMC3769930

Article PDF–1.3M

Select item 43954948.

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

Elle C. Roberson, William E. Dowdle, Aysegul Ozanturk, Francesc R. Garcia-Gonzalo, Chunmei Li, Jan Halbritter, Nadia Elkhartoufi, Jonathan D. Porath, Heidi Cope, Allison Ashley-Koch, Simon Gregory, Sophie Thomas, John A. Sayer, Sophie Saunier, Edgar A. Otto, Nicholas Katsanis, Erica E. Davis, Tania Attié-Bitach, Friedhelm Hildebrandt, Michel R. Leroux, Jeremy F. Reiter

J Cell Biol. 2015 Apr 13; 209(1): 129–142. doi: 10.1083/jcb.201411087

PMCID:: PMC4395494

Article PDF–2.8M

Select item 10170069.

Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.

P Meinecke, H Hayek

J Med Genet. 1990 Mar; 27(3): 200–202. doi: 10.1136/jmg.27.3.200

PMCID:: PMC1017006

Summary Page Browse PDF–599K

Select item 101618210.

Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.

K H Orstavik, S E Tangsrud, T Nordshus, A M Finnanger, C Hellum, E Gjessing

J Med Genet. 1992 Nov; 29(11): 827–830. doi: 10.1136/jmg.29.11.827

PMCID:: PMC1016182

Summary Page Browse PDF–1.2M

Select item 101705611.

A male with type I orofaciodigital syndrome.

J Goodship, J Platt, R Smith, J Burn

J Med Genet. 1991 Oct; 28(10): 691–694. doi: 10.1136/jmg.28.10.691

PMCID:: PMC1017056

Summary Page Browse PDF–930K

Select item 960638412.

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia

Asier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, Ghada A. Otaify, Rasha Elhossini, Marina L. Perez-Sanz, Julián Nevado, Jair Tenorio-Castano, Juan Carlos Triviño, Francesc R. Garcia-Gonzalo, Francesca Piceci-Sparascio, Alessandro De Luca, Leopoldo Martínez, Tugba Kalaycı, Pablo Lapunzina, Umut Altunoglu, Mona Aglan, Ebtesam Abdalla, Victor L. Ruiz-Perez

Am J Hum Genet. 2022 Oct 6; 109(10): 1828–1849. Published online 2022 Sep 8. doi: 10.1016/j.ajhg.2022.08.009

PMCID:: PMC9606384

Article PDF–3.7M

Select item 104989413.

Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.

D Donnai, L Kerzin-Storrar, R Harris

J Med Genet. 1987 Feb; 24(2): 84–87. doi: 10.1136/jmg.24.2.84

PMCID:: PMC1049894

Summary Page Browse PDF–912K

Select item 104926414.

Orofaciodigital syndrome with mesomelic limb shortening.

J Burn, C Dezateux, C M Hall, M Baraitser

J Med Genet. 1984 Jun; 21(3): 189–192. doi: 10.1136/jmg.21.3.189

PMCID:: PMC1049264

Summary Page Browse PDF–1.0M

Select item 104990415.

Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.

A A Connacher, C C Forsyth, W K Stewart

J Med Genet. 1987 Feb; 24(2): 116–118. doi: 10.1136/jmg.24.2.116

PMCID:: PMC1049904

Summary Page Browse PDF–713K

Select item 770270816.

Orofaciodigital syndrome type II (Mohr syndrome): a case report

Bita Malekianzadeh, Fardis Vosoughi, Ramin Zargarbashi

BMC Musculoskelet Disord. 2020; 21: 793. Published online 2020 Nov 30. doi: 10.1186/s12891-020-03825-x

PMCID:: PMC7702708

Article PDF–5.5M

Select item 173431217.

Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?

L Al-Gazali, L Sztriha, J Punnose, W Shather, M Nork

J Med Genet. 1999 Feb; 36(2): 161–166.

PMCID:: PMC1734312

Summary PDF–144K

Select item 476011918.

Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly

Ingrid M Wentzensen, Jennifer J Johnston, John H Patton, John M Graham, Julie C Sapp, Leslie G Biesecker

Hum Genome Var. 2016; 3: 15069. Published online 2016 Feb 4. doi: 10.1038/hgv.2015.69

PMCID:: PMC4760119

Article PDF–1.4M

Select item 995727719.

Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome

Sorina Mihaela Papuc, Alina Erbescu, Adelina Glangher, Ioana Streata, Anca-Lelia Riza, Magdalena Budisteanu, Aurora Arghir

Genes (Basel) 2023 Feb; 14(2): 327. Published online 2023 Jan 27. doi: 10.3390/genes14020327

PMCID:: PMC9957277

Article PDF–567K

Select item 875012820.

Clinical and Descriptive Study of Orofacial Clefts in Colombia: 2069 Patients From Operation Smile Foundation

Alejandro Silva Espinosa, Julio Cesar Martinez, Yubahhaline Molina, María Alejandra Bermúdez Gordillo, Daniel Ramos Hernández, Daniela Zárate Rivera, Blanka Pacheco Olmos, Nathaly Ramírez, Liliana Arias, Andres Zarate, Q. Diana Marcela Diaz, Andrew Collins, Álvaro Mauricio Herrera Cepeda, Ignacio Briceño Balcazar

Cleft Palate Craniofac J. 2022 Feb; 59(2): 200–208. Published online 2021 Mar 19. doi: 10.1177/10556656211000551

PMCID:: PMC8750128

Article PDF–412K

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