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Items: 1 to 20 of 500

1.
Fraser Syndrome: A Stumbling Block for the Anaesthesiologist
Sapna Bathla, Wahaja Karim, Anil Kumar, Charu Bamba
Indian J Otolaryngol Head Neck Surg. 2022 Dec; 74(Suppl 3): 5225–5227. Published online 2020 Apr 16. doi: 10.1007/s12070-020-01843-8
PMCID:
PMC9895535
AbstractArticlePDF–292K
2.
Clinical features and orbital anomalies in Fraser syndrome and a review of management options
Deepsekhar Das, Sujeeth Modaboyina, Sandton Raj, Sahil Agrawal, Mandeep Singh Bajaj
Indian J Ophthalmol. 2022 Jul; 70(7): 2559–2563. Published online 2022 Jun 30. doi: 10.4103/ijo.IJO_2627_21
PMCID:
PMC9426139
AbstractArticlePDF–2.0M
3.
A Rare Case of Fraser Syndrome with Partial Vaginal Agenesis and Its Successful Reconstructive Cosmetic Management: A Case Report
Sambedana Panigrahi, Kirtirekha Mohapatra, Madhusmita Pradhan, Shubhankar Mishra, Sampriti Samal
J Obstet Gynaecol India. 2022 Aug; 72(4): 349–352. Published online 2022 Jan 5. doi: 10.1007/s13224-021-01462-5
PMCID:
PMC9339435
AbstractArticlePDF–1.0M
4.
Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2
Shoko Ikeda, Chika Akamatsu, Akifumi Ijuin, Ami Nagashima, Megumi Sasaki, Akihiko Mochizuki, Hiromi Nagase, Yumi Enomoto, Yukiko Kuroda, Kenji Kurosawa, Hiroshi Ishikawa
Hum Genome Var. 2020; 7: 32. Published online 2020 Oct 2. doi: 10.1038/s41439-020-00119-5
PMCID:
PMC7532185
AbstractArticlePDF–2.4M
5.
Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report
Muhamad Zakaria Brimo Alsaman, Sarab Agha, Hala Sallah, Rayan Badawi, Mohammad Nour Kitaz, Abdullah Assani, Hamdi Nawfal
BMC Pregnancy Childbirth. 2020; 20: 358. Published online 2020 Jun 10. doi: 10.1186/s12884-020-03048-x
PMCID:
PMC7288532
AbstractArticlePDF–2.1M
6.
Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report
Aimé Mbonda, Francky Teddy Endomba, Ulrick S. Kanmounye, Jan René Nkeck, Joel Noutakdie Tochie
BMC Pediatr. 2019; 19: 292. Published online 2019 Aug 22. doi: 10.1186/s12887-019-1673-6
PMCID:
PMC6704688
AbstractArticlePDF–1.8M
7.
Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review
Megan E. Falls, Michael P. Rabinowitz, Jacqueline R. Carrasco, Mindy R. Rabinowitz
Allergy Rhinol (Providence) 2018 Jan-Dec; 9: 2152656718804905. Published online 2018 Oct 22. doi: 10.1177/2152656718804905
PMCID:
PMC6198391
AbstractArticlePDF–272K
8.
Fraser Syndrome - a Case Report and Review of Literature
Adrian Dumitru, Mariana Costache, Anca Mihaela Lazaroiu, George Simion, Diana Secara, Monica Cirstoiu, Alina Emanoil, Tiberiu Augustin Georgescu, Maria Sajin
Maedica (Bucur) 2016 Mar; 11(1): 80–83.
PMCID:
PMC5394498
AbstractArticlePDF–205K
9.
Prenatal diagnosis of Fraser syndrome: a matter of life or death?
Giuseppe De Bernardo, Maurizio Giordano, Antonino Di Toro, Desiree Sordino, Daniele De Brasi
Ital J Pediatr. 2015; 41: 86. Published online 2015 Nov 9. doi: 10.1186/s13052-015-0195-6
PMCID:
PMC4640198
AbstractArticlePDF–2.2M
10.
Fraser Syndrome-Oral Manifestations and a Dental Care Protocol
Talita Lopes de Oliveira, Giselle Rodrigues de Sant'Anna
Case Rep Dent. 2014; 2014: 486108. Published online 2014 Dec 21. doi: 10.1155/2014/486108
PMCID:
PMC4283454
AbstractArticlePDF–1.6M
11.
Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome–associated proteins
Daiji Kiyozumi, Makiko Takeichi, Itsuko Nakano, Yuya Sato, Tomohiko Fukuda, Kiyotoshi Sekiguchi
J Cell Biol. 2012 May 28; 197(5): 677–689. doi: 10.1083/jcb.201203065
PMCID:
PMC3365501
AbstractArticlePDF–2.9M
12.
Fraser syndrome in three consecutive siblings
Kaarthigeyan Kalaniti, V. Sandhya
Oman J Ophthalmol. 2011 May-Aug; 4(2): 87–89. doi: 10.4103/0974-620X.83661
PMCID:
PMC3160077
AbstractArticle
13.
Genetic Analysis of Fin Development in Zebrafish Identifies Furin and Hemicentin1 as Potential Novel Fraser Syndrome Disease Genes
Thomas J. Carney, Natália Martins Feitosa, Carmen Sonntag, Krasimir Slanchev, Johannes Kluger, Daiji Kiyozumi, Jan M. Gebauer, Jared Coffin Talbot, Charles B. Kimmel, Kiyotoshi Sekiguchi, Raimund Wagener, Heinz Schwarz, Phillip W. Ingham, Matthias Hammerschmidt
PLoS Genet. 2010 Apr; 6(4): e1000907. Published online 2010 Apr 15. doi: 10.1371/journal.pgen.1000907
PMCID:
PMC2855323
AbstractArticlePDF–1.7M
14.
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
A Slavotinek, C Tifft
J Med Genet. 2002 Sep; 39(9): 623–633. doi: 10.1136/jmg.39.9.623
PMCID:
PMC1735240
SummaryPDF–167K
15.
The clinical spectrum of the Fraser syndrome: report of three new cases and review.
J Gattuso, M A Patton, M Baraitser
J Med Genet. 1987 Sep; 24(9): 549–555. doi: 10.1136/jmg.24.9.549
PMCID:
PMC1050267
SummaryPage BrowsePDF–1.3M
16.
Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis
G Mortimer, H P McEwan, J R W Yates
J Med Genet. 1985 Feb; 22(1): 76–78. doi: 10.1136/jmg.22.1.76
PMCID:
PMC1049385
SummaryPage BrowsePDF–458K
17.
Fraser syndrome presenting as bilateral renal agenesis in three sibs
J Burn, R P Marwood
J Med Genet. 1982 Oct; 19(5): 360–361. doi: 10.1136/jmg.19.5.360
PMCID:
PMC1048921
SummaryPage BrowsePDF–338K
18.
Excluding embryos with two novel mutations in FREM2 gene by the next-generation sequencing-based single nucleotide polymorphism haplotyping
Yao Zhou, Xiaohui Yang, Zheng Liu, Yu Zhang, Huaye Chen, Yongfang Zhang, Yuxin Hu, Yanlin Ma, Qi Li
Aging (Albany NY) 2021 Nov 30; 13(22): 24786–24794. Published online 2021 Nov 27. doi: 10.18632/aging.203715
PMCID:
PMC8660615
AbstractArticlePDF–889K
19.
Human disease-associated extracellular matrix orthologs ECM3 and QBRICK regulate primary mesenchymal cell migration in sea urchin embryos
Daiji Kiyozumi, Shunsuke Yaguchi, Junko Yaguchi, Atsuko Yamazaki, Kiyotoshi Sekiguchi
Exp Anim. 2021; 70(3): 378–386. Published online 2021 Apr 6. doi: 10.1538/expanim.21-0001
PMCID:
PMC8390315
AbstractArticlePDF–2.0M
20.
Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes
Lord J. J. Gowans, Noura Al Dhaheri, Mary Li, Tamara Busch, Solomon Obiri‐Yeboah, Alexander A. Oti, Daniel K. Sabbah, Fareed K. N. Arthur, Waheed O. Awotoye, Azeez A. Alade, Peter Twumasi, Pius Agbenorku, Gyikua Plange‐Rhule, Thirona Naicker, Peter Donkor, Jeffrey C. Murray, Nara L. M. Sobreira, Azeez Butali
Mol Genet Genomic Med. 2021 Apr; 9(4): e1655. Published online 2021 Mar 14. doi: 10.1002/mgg3.1655
PMCID:
PMC8123728
AbstractArticlePDF–1.1M

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