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Items: 23

1.

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Wambach JA, Wegner DJ, Patni N, Kircher M, Willing MC, Baldridge D, Xing C, Agarwal AK, Vergano SAS, Patel C, Grange DK, Kenney A, Najaf T, Nickerson DA, Bamshad MJ, Cole FS, Garg A.

Am J Hum Genet. 2018 Dec 6;103(6):968-975. doi: 10.1016/j.ajhg.2018.10.010. Epub 2018 Nov 7.

2.

Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome.

Cheng C, Deng PY, Ikeuchi Y, Yuede C, Li D, Rensing N, Huang J, Baldridge D, Maloney SE, Dougherty JD, Constantino J, Jahani-Asl A, Wong M, Wozniak DF, Wang T, Klyachko VA, Bonni A.

Cell Rep. 2018 Nov 6;25(6):1404-1414.e6. doi: 10.1016/j.celrep.2018.10.043.

3.

Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.

Wambach JA, Wegner DJ, Yang P, Shinawi M, Baldridge D, Betleja E, Shimony JS, Spencer D, Hackett BP, Andrews MV, Ferkol T, Dutcher SK, Mahjoub MR, Cole FS.

Pediatr Res. 2018 Sep;84(3):435-441. doi: 10.1038/s41390-018-0083-z. Epub 2018 Jun 4.

4.

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R.

Hum Mutat. 2017 Nov;38(11):1477-1484. doi: 10.1002/humu.23297. Epub 2017 Aug 17.

5.

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Baldridge D, Heeley J, Vineyard M, Manwaring L, Toler TL, Fassi E, Fiala E, Brown S, Goss CW, Willing M, Grange DK, Kozel BA, Shinawi M.

Genet Med. 2017 Sep;19(9):1040-1048. doi: 10.1038/gim.2016.224. Epub 2017 Mar 2.

6.

Digynic triploidy: utility and challenges of noninvasive prenatal testing.

Fleischer J, Shenoy A, Goetzinger K, Cottrell CE, Baldridge D, White FV, Shinawi M.

Clin Case Rep. 2015 Jun;3(6):406-10. doi: 10.1002/ccr3.247. Epub 2015 Apr 9.

7.

Mental health disorders among an invisible minority: depression and dementia among american Indian and alaska native elders.

Garrett MD, Baldridge D, Benson W, Crowder J, Aldrich N.

Gerontologist. 2015 Apr;55(2):227-36. doi: 10.1093/geront/gnu181. Epub 2015 Feb 15.

PMID:
26035598
8.

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Lupski JR, Beaudet A.

PLoS Genet. 2014 Mar 27;10(3):e1004258. doi: 10.1371/journal.pgen.1004258. eCollection 2014 Mar.

9.

Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.

Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH.

J Bone Miner Res. 2013 Jul;28(7):1523-30. doi: 10.1002/jbmr.1891.

10.

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.

Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B.

J Bone Miner Res. 2011 Mar;26(3):666-72. doi: 10.1002/jbmr.250.

11.

Signaling pathways in human skeletal dysplasias.

Baldridge D, Shchelochkov O, Kelley B, Lee B.

Annu Rev Genomics Hum Genet. 2010;11:189-217. doi: 10.1146/annurev-genom-082908-150158. Review.

PMID:
20690819
12.

Generalized connective tissue disease in Crtap-/- mouse.

Baldridge D, Lennington J, Weis M, Homan EP, Jiang MM, Munivez E, Keene DR, Hogue WR, Pyott S, Byers PH, Krakow D, Cohn DH, Eyre DR, Lee B, Morello R.

PLoS One. 2010 May 11;5(5):e10560. doi: 10.1371/journal.pone.0010560.

13.

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D.

Am J Hum Genet. 2010 Apr 9;86(4):551-9. doi: 10.1016/j.ajhg.2010.02.022. Epub 2010 Apr 1. Erratum in: Am J Hum Genet. 2010 Oct 8;87(4):572-3.

14.

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.

Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B.

Hum Mutat. 2008 Dec;29(12):1435-42. doi: 10.1002/humu.20799.

15.

The presence of germ line mosaicism in cleidocranial dysplasia.

Pal T, Napierala D, Becker TA, Loscalzo M, Baldridge D, Lee B, Sutphen R.

Clin Genet. 2007 Jun;71(6):589-91.

PMID:
17539909
16.

Sequence and structure of the mouse connexin45 gene.

Baldridge D, Lecanda F, Shin CS, Stains J, Civitelli R.

Biosci Rep. 2001 Oct;21(5):683-9.

PMID:
12168774
17.

Feather pillow dermatitis caused by an unusual mite, Dermatophagoides scheremetewskyi.

Aylesworth R, Baldridge D.

J Am Acad Dermatol. 1985 Oct;13(4):680-1. No abstract available.

PMID:
4078063
18.

Dermatophagoides scheremetewskyi and feather pillow dermatitis.

Aylesworth R, Baldridge D.

Minn Med. 1983 Jan;66(1):43. No abstract available.

PMID:
6843538
19.

Functional model for the characterisation of the ventricular mechanics of the human subject.

Clark JW, Pruett RC, Baldridge DL, Srinivasan R, Bourland HM, Cole JS, Brower RW.

Med Biol Eng Comput. 1977 Jul;15(4):335-48. No abstract available.

PMID:
197325
20.

Philosophies distinguishing the Begg technique.

Baldridge DW.

Am J Orthod. 1973 Jan;63(1):30-46. No abstract available.

PMID:
4508915
21.

Leveling the curve of Spee: its effect on mandibular arch length.

Baldridge DW.

JPO J Pract Orthod. 1969 Jan;3(1):26-41. No abstract available.

PMID:
5250875
22.

The orthodontic gospel according to Begg.

Johnson GA, Baldridge DW.

J La Dent Assoc. 1966 Summer;24(1):5-8. No abstract available.

PMID:
5220302
23.

Porokeratosis (Mibelli).

MURPHY EL, BALDRIDGE D.

AMA Arch Derm Syphilol. 1951 Dec;64(6):798. No abstract available.

PMID:
14867926

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