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Items: 18

Select item 101844671.

Isolated Agnathia-Otocephaly Complex Diagnosed Prenatally for Ex-Utero Intrapartum Treatment: A Case Report

Tokumasa Suemitsu, Ami Takesawa, Mayu Hosokawa, Takahiro Mitani, Mizuho Kadooka, Yoshiaki Furusawa, Motoyoshi Kawataki, Satoshi Dohi

Am J Case Rep. 2023; 24: e939016-1–e939016-7. Published online 2023 May 11. doi: 10.12659/AJCR.939016

PMCID:: PMC10184467

Abstract Article PDF–2.9M

Select item 97786142.

Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene

Marco Fabiani, Francesco Libotte, Katia Margiotti, Dina Khader Issa Tannous, Davide Sparacino, Maria Pia D’Aleo, Francesca Monaco, Claudio Dello Russo, Alvaro Mesoraca, Claudio Giorlandino

Genes (Basel) 2022 Dec; 13(12): 2269. Published online 2022 Dec 2. doi: 10.3390/genes13122269

PMCID:: PMC9778614

Abstract Article PDF–5.8M

Select item 93394323.

Prenatal Diagnosis of Otocephaly: A Rare Facial Anomaly

Shreya Goenka, K. Sahithi, Chinmayee Ratha

J Obstet Gynaecol India. 2022 Aug; 72(4): 364–368. Published online 2021 Jul 7. doi: 10.1007/s13224-021-01494-x

PMCID:: PMC9339432

Abstract Article PDF–1.5M

Select item 90363744.

Advances in prenatal diagnosis of fetal otocephaly by 3D imaging

Janis Kinkel, Thomas Rduch, Désirée Abgottspon, Tina Fischer

BMJ Case Rep. 2022; 15(4): e249276. Published online 2022 Apr 22. doi: 10.1136/bcr-2022-249276

PMCID:: PMC9036374

Abstract Article PDF–617K

Select item 84298585.

Agnathia-otocephaly complex diagnosed by prenatal ultrasound: a case report

Xueqin Ji, Yuan Zhao, Yan Xia, Yang Wu, Rui Xu, Hairui Wang, Feihai Liyan

Transl Pediatr. 2021 Aug; 10(8): 2131–2135. doi: 10.21037/tp-21-235

PMCID:: PMC8429858

Abstract Article PDF–701K

Select item 71964626.

Expanding the spectrum of SMAD3‐related phenotypes to agnathia‐otocephaly

Nicole Meier, Elisabeth Bruder, Peter Miny, Sevgi Tercanli, Isabel Filges

Mol Genet Genomic Med. 2020 Apr; 8(4): e1178. Published online 2020 Feb 26. doi: 10.1002/mgg3.1178

PMCID:: PMC7196462

Abstract Article PDF–659K

Select item 69773437.

A de novo variant in OTX2 in a lamb with otocephaly

Julia Maria Paris, Anna Letko, Irene Monika Häfliger, Tanja Švara, Mitja Gombač, Primož Klinc, Andrej Škibin, Estera Pogorevc, Cord Drögemüller

Acta Vet Scand. 2020; 62: 5. Published online 2020 Jan 22. doi: 10.1186/s13028-020-0503-z

PMCID:: PMC6977343

Abstract Article PDF–1.1M

Select item 55890318.

Cyclopia: isolated and with agnathia–otocephaly complex

Lin Tun Wai, Suresh Chandran

BMJ Case Rep. 2017; 2017: bcr2017220159. Published online 2017 Aug 30. doi: 10.1136/bcr-2017-220159

PMCID:: PMC5589031

Abstract Article PDF–707K

Select item 49890779.

Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature

Kazuhiro Kajiwara, Tomohiro Tanemoto, Chie Nagata, Aikou Okamoto

Case Rep Obstet Gynecol. 2016; 2016: 8512351. Published online 2016 Aug 4. doi: 10.1155/2016/8512351

PMCID:: PMC4989077

Abstract Article PDF–1.7M

Select item 460624110.

Otocephaly: Agnathia- Microstomia-Synotia Syndrome– A Rare Congenital Anomaly

Sunil Vitthalrao Jagtap, Neerav Saini, Swati Jagtap, Sneha Saini

J Clin Diagn Res. 2015 Sep; 9(9): ED03–ED04. Published online 2015 Sep 1. doi: 10.7860/JCDR/2015/13636.6444

PMCID:: PMC4606241

Abstract Article PDF–466K

Select item 377646711.

Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2

O. Patat, C.M.A. van Ravenswaaij-Arts, J. Tantau, N. Corsten-Janssen, J.P. van Tintelen, T. Dijkhuizen, J. Kaplan, N. Chassaing

Mol Syndromol. 2013 Sep; 4(6): 302–305. Published online 2013 Jul 9. doi: 10.1159/000353727

PMCID:: PMC3776467

Abstract Article PDF–159K

Select item 149426212.

Anatomy of the Canine Skull in Low-grade Otocephaly

M. W. Fox

Can J Comp Med Vet Sci. 1964 May; 28(5): 105–107.

PMCID:: PMC1494262

Summary Page Browse PDF–910K

Select item 448406013.

Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic Mother

Dibyajyoti Goswami, Giriraj Kusre

J Clin Diagn Res. 2015 May; 9(5): AD01–AD02. Published online 2015 May 1. doi: 10.7860/JCDR/2015/12733.5884

PMCID:: PMC4484060

Abstract Article PDF–197K

Select item 346420114.

Mutations in Hedgehog Acyltransferase (Hhat) Perturb Hedgehog Signaling, Resulting in Severe Acrania-Holoprosencephaly-Agnathia Craniofacial Defects

Jennifer F. Dennis, Hiroshi Kurosaka, Angelo Iulianella, Jennifer Pace, Nancy Thomas, Sharon Beckham, Trevor Williams, Paul A. Trainor

PLoS Genet. 2012 Oct; 8(10): e1002927. Published online 2012 Oct 4. doi: 10.1371/journal.pgen.1002927

PMCID:: PMC3464201

Abstract Article PDF–5.8M

Select item 392974715.

The Teratogenic Effects of Prenatal Ethanol Exposure Are Exacerbated by Sonic Hedgehog or Gli2 Haploinsufficiency in the Mouse

Henry W. Kietzman, Joshua L. Everson, Kathleen K. Sulik, Robert J. Lipinski

PLoS One. 2014; 9(2): e89448. Published online 2014 Feb 19. doi: 10.1371/journal.pone.0089448

PMCID:: PMC3929747

Abstract Article PDF–309K

Select item 144092816.

Embryonic salivary gland dysmorphogenesis in Twisted gastrulation deficient mice

Michael Melnick, Anna Petryk, George Abichaker, Dan Witcher, Anthony D. Person, Tina Jaskoll

Arch Oral Biol. Author manuscript; available in PMC 2006 May 1.

Published in final edited form as: Arch Oral Biol. 2006 May; 51(5): 433–438. Published online 2005 Nov 14. doi: 10.1016/j.archoralbio.2005.09.010

PMCID:: PMC1440928

Abstract Article PDF–833K

Select item 428157717.

A Mouse Splice-Site Mutant and Individuals with Atypical Chromosome 22q11.2 Deletions Demonstrate the Crucial Role for Crkl in Craniofacial and Pharyngeal Development

Kerry A. Miller, Tiong Y. Tan, Megan F. Welfare, Susan M. White, Zornitza Stark, Ravi Savarirayan, Trent Burgess, Andrew A. Heggie, Georgina Caruana, John F. Bertram, John F. Bateman, Peter G. Farlie

Mol Syndromol. 2014 Dec; 5(6): 276–286. Published online 2014 Nov 8. doi: 10.1159/000368865

PMCID:: PMC4281577

Abstract Article PDF–878K

Select item 158369318.

Developmental Abnormalities of the Canine Skull

M. W. Fox

Can J Comp Med Vet Sci. 1963 Sep; 27(9): 219–222.

PMCID:: PMC1583693

Summary Page Browse PDF–2.0M

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PMC Articles for MedGen (Select 78541) (18)
PMC
3-phosphoshikimate 1-carboxyvinyltransferase [Serpentinicella sp. ANB-PHB4]
3-phosphoshikimate 1-carboxyvinyltransferase [Serpentinicella sp. ANB-PHB4]
gi|2578702695|ref|WP_310477998.1|

Protein
Homo sapiens nidogen 2 (NID2), mRNA
Homo sapiens nidogen 2 (NID2), mRNA
gi|1519244289|ref|NM_007361.4|

Nucleotide

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