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Results: 1 to 20 of 48

1.

Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.

Nur BG, Bernier FP, Oztekin O, Kardelen F, Kalay S, Parboosingh JS, Mihci E.

Am J Med Genet A. 2013 Sep;161(9):2311-5. doi: 10.1002/ajmg.a.36051. Epub 2013 Aug 2.

PMID:
23913624
[PubMed - indexed for MEDLINE]
2.

Identifying Mendelian disease genes with the variant effect scoring tool.

Carter H, Douville C, Stenson PD, Cooper DN, Karchin R.

BMC Genomics. 2013;14 Suppl 3:S3. doi: 10.1186/1471-2164-14-S3-S3. Epub 2013 May 28.

PMID:
23819870
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Human facial dysostoses.

Wieczorek D.

Clin Genet. 2013 Jun;83(6):499-510. doi: 10.1111/cge.12123. Epub 2013 Apr 8. Review.

PMID:
23565775
[PubMed - indexed for MEDLINE]
4.

Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients.

Fang J, Uchiumi T, Yagi M, Matsumoto S, Amamoto R, Saito T, Takazaki S, Kanki T, Yamaza H, Nonaka K, Kang D.

Biosci Rep. 2012 Dec;32(6):631-9. doi: 10.1042/BSR20120046.

PMID:
22967083
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

Rainger J, Bengani H, Campbell L, Anderson E, Sokhi K, Lam W, Riess A, Ansari M, Smithson S, Lees M, Mercer C, McKenzie K, Lengfeld T, Gener Querol B, Branney P, McKay S, Morrison H, Medina B, Robertson M, Kohlhase J, Gordon C, Kirk J, Wieczorek D, Fitzpatrick DR.

Hum Mol Genet. 2012 Sep 15;21(18):3969-83. doi: 10.1093/hmg/dds218. Epub 2012 Jun 12.

PMID:
22692683
[PubMed - indexed for MEDLINE]
Free Article
6.

Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms.

Tabor HK, Stock J, Brazg T, McMillin MJ, Dent KM, Yu JH, Shendure J, Bamshad MJ.

Am J Med Genet A. 2012 Jun;158A(6):1310-9. doi: 10.1002/ajmg.a.35328. Epub 2012 Apr 24.

PMID:
22532433
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Finding disease variants in Mendelian disorders by using sequence data: methods and applications.

Ionita-Laza I, Makarov V, Yoon S, Raby B, Buxbaum J, Nicolae DL, Lin X.

Am J Hum Genet. 2011 Dec 9;89(6):701-12. doi: 10.1016/j.ajhg.2011.11.003. Epub 2011 Dec 1.

PMID:
22137099
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Miller syndrome with novel dihydroorotate dehydrogenase gene mutations.

Kinoshita F, Kondoh T, Komori K, Matsui T, Harada N, Yanai A, Fukuda M, Morifuji K, Matsumoto T.

Pediatr Int. 2011 Aug;53(4):587-91. doi: 10.1111/j.1442-200X.2010.03303.x. No abstract available.

PMID:
21851494
[PubMed - indexed for MEDLINE]
9.

Extra phenotypic features in a girl with Miller syndrome.

Al Kaissi A, Roetzer KM, Ulz P, Heitzer E, Klaushofer K, Grill F.

Clin Dysmorphol. 2011 Apr;20(2):66-72. doi: 10.1097/MCD.0b013e3283416701.

PMID:
21346561
[PubMed - indexed for MEDLINE]
10.

Revisiting Mendelian disorders through exome sequencing.

Ku CS, Naidoo N, Pawitan Y.

Hum Genet. 2011 Apr;129(4):351-70. doi: 10.1007/s00439-011-0964-2. Epub 2011 Feb 18. Review.

PMID:
21331778
[PubMed - indexed for MEDLINE]
11.

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.

Wang K, Li M, Hakonarson H.

Nucleic Acids Res. 2010 Sep;38(16):e164. doi: 10.1093/nar/gkq603. Epub 2010 Jul 3.

PMID:
20601685
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?

Zhang Y, Dai Y, Liu Y, Ren J.

Clin Genet. 2010 Dec;78(6):570-4. doi: 10.1111/j.1399-0004.2010.01427.x.

PMID:
20412112
[PubMed - indexed for MEDLINE]
13.

Analysis of genetic inheritance in a family quartet by whole-genome sequencing.

Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ.

Science. 2010 Apr 30;328(5978):636-9. doi: 10.1126/science.1186802. Epub 2010 Mar 10.

PMID:
20220176
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Exome sequencing makes medical genomics a reality.

Biesecker LG.

Nat Genet. 2010 Jan;42(1):13-4. doi: 10.1038/ng0110-13.

PMID:
20037612
[PubMed - indexed for MEDLINE]
15.

Exome sequencing identifies the cause of a mendelian disorder.

Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ.

Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Epub 2009 Nov 13.

PMID:
19915526
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A variant or a "new" postaxial acrofacial dysostosis syndrome.

Sułko J, Kotulski D, Kozlowski K.

Eur J Pediatr. 2008 Dec;167(12):1385-8. doi: 10.1007/s00431-008-0678-1. Epub 2008 Feb 20.

PMID:
18286304
[PubMed - indexed for MEDLINE]
17.

Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.

Sermer D, Quercia N, Chong K, Chitayat D.

Am J Med Genet A. 2007 Dec 15;143A(24):3286-9.

PMID:
18000904
[PubMed - indexed for MEDLINE]
18.

A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.

Hing AV, Leblond C, Sze RW, Starr JR, Monks S, Parisi MA.

Am J Med Genet A. 2006 Apr 15;140(8):804-12.

PMID:
16523509
[PubMed - indexed for MEDLINE]
19.

Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia.

Thiel CT, Rosanowski F, Kohlhase J, Reis A, Rauch A.

Clin Dysmorphol. 2005 Apr;14(2):67-71.

PMID:
15770127
[PubMed - indexed for MEDLINE]
20.

The fetal mandible: a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia.

Rotten D, Levaillant JM, Martinez H, Ducou le Pointe H, Vicaut E.

Ultrasound Obstet Gynecol. 2002 Feb;19(2):122-30.

PMID:
11876802
[PubMed - indexed for MEDLINE]
Free Article

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