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Items: 20

1.

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Brooks BP, Zein WM, Thompson AH, Mokhtarzadeh M, Doherty DA, Parisi M, Glass IA, Malicdan MC, Vilboux T, Vemulapalli M, Mullikin JC, Gahl WA, Gunay-Aygun M.

Ophthalmology. 2018 Dec;125(12):1937-1952. doi: 10.1016/j.ophtha.2018.05.026. Epub 2018 Jul 25.

2.

Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism.

Guan B, Welch JM, Vemulapalli M, Li Y, Ling H, Kebebew E, Simonds WF, Marx SJ, Agarwal SK.

J Endocr Soc. 2017 Mar 23;1(5):488-499. doi: 10.1210/js.2017-00043. eCollection 2017 May 1.

3.

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M.

Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16.

4.

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.

Strongin A, Heller T, Doherty D, Glass IA, Parisi MA, Bryant J, Choyke P, Turkbey B, Daryanani K, Yildirimli D, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Gahl WA, Gunay-Aygun M; NISC Comparative Sequencing Program.

J Pediatr Gastroenterol Nutr. 2018 Mar;66(3):428-435. doi: 10.1097/MPG.0000000000001816.

5.

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

Kimble DC, Lach FP, Gregg SQ, Donovan FX, Flynn EK, Kamat A, Young A, Vemulapalli M, Thomas JW, Mullikin JC, Auerbach AD, Smogorzewska A, Chandrasekharappa SC.

Hum Mutat. 2018 Feb;39(2):237-254. doi: 10.1002/humu.23366. Epub 2017 Nov 22.

6.

Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.

Chandrasekharappa SC, Chinn SB, Donovan FX, Chowdhury NI, Kamat A, Adeyemo AA, Thomas JW, Vemulapalli M, Hussey CS, Reid HH, Mullikin JC, Wei Q, Sturgis EM.

Cancer. 2017 Oct 15;123(20):3943-3954. doi: 10.1002/cncr.30802. Epub 2017 Jul 5.

7.

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

Summers AC, Snow J, Wiggs E, Liu AG, Toro C, Poretti A, Zein WM, Brooks BP, Parisi MA, Inati S, Doherty D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Vilboux T, Gahl WA, Gunay-Aygun M.

Am J Med Genet A. 2017 Jul;173(7):1796-1812. doi: 10.1002/ajmg.a.38272. Epub 2017 May 12.

8.

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.

Stephen J, Vilboux T, Mian L, Kuptanon C, Sinclair CM, Yildirimli D, Maynard DM, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Huizing M, Gahl WA, Malicdan MCV, Gunay-Aygun M.

Hum Genet. 2017 Apr;136(4):399-408. doi: 10.1007/s00439-017-1765-z. Epub 2017 Feb 20.

9.

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.

Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, Zein W, Brooks BP, Heller T, Soldatos A, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, Nisc Comparative Sequencing Program, Malicdan MCV, Gahl WA, Gunay-Aygun M.

Genet Med. 2017 Aug;19(8):875-882. doi: 10.1038/gim.2016.204. Epub 2017 Jan 26.

PMID:
28125082
10.

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.

Poretti A, Snow J, Summers AC, Tekes A, Huisman TAGM, Aygun N, Carson KA, Doherty D, Parisi MA, Toro C, Yildirimli D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Cullinane AR, Vilboux T, Gahl WA, Gunay-Aygun M.

J Med Genet. 2017 Aug;54(8):521-529. doi: 10.1136/jmedgenet-2016-104425. Epub 2017 Jan 13.

PMID:
28087721
11.

CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

Vilboux T, Malicdan MC, Roney JC, Cullinane AR, Stephen J, Yildirimli D, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Steinbach PJ, Gahl WA, Gunay-Aygun M.

Am J Med Genet A. 2017 Mar;173(3):661-666. doi: 10.1002/ajmg.a.38005. Epub 2017 Jan 4.

PMID:
28052552
12.

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.

Vilboux T, Malicdan MC, Chang YM, Guo J, Zerfas PM, Stephen J, Cullinane AR, Bryant J, Fischer R, Brooks BP, Zein WM, Wiggs EA, Zalewski CK, Poretti A, Bryan MM, Vemulapalli M, Mullikin JC, Kirby M, Anderson SM; NISC Comparative Sequencing Program, Huizing M, Toro C, Gahl WA, Gunay-Aygun M.

J Med Genet. 2016 May;53(5):318-29. doi: 10.1136/jmedgenet-2015-103416. Epub 2016 Jan 13.

PMID:
27095636
13.

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

Malicdan MC, Vilboux T, Stephen J, Maglic D, Mian L, Konzman D, Guo J, Yildirimli D, Bryant J, Fischer R, Zein WM, Snow J, Vemulapalli M, Mullikin JC, Toro C, Solomon BD, Niederhuber JE; NISC Comparative Sequencing Program, Gahl WA, Gunay-Aygun M.

J Med Genet. 2015 Dec;52(12):830-9. doi: 10.1136/jmedgenet-2015-103316. Epub 2015 Sep 18.

14.

The transcription factors Ets1 and Sox10 interact during murine melanocyte development.

Saldana-Caboverde A, Perera EM, Watkins-Chow DE, Hansen NF, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Pavan WJ, Kos L.

Dev Biol. 2015 Nov 15;407(2):300-12. doi: 10.1016/j.ydbio.2015.04.012. Epub 2015 Apr 23.

15.

Antidepressants for cognitive impairment in schizophrenia--a systematic review and meta-analysis.

Vernon JA, Grudnikoff E, Seidman AJ, Frazier TW, Vemulapalli MS, Pareek P, Goldberg TE, Kane JM, Correll CU.

Schizophr Res. 2014 Nov;159(2-3):385-94. doi: 10.1016/j.schres.2014.08.015. Epub 2014 Sep 18. Review.

16.

A defined zebrafish line for high-throughput genetics and genomics: NHGRI-1.

LaFave MC, Varshney GK, Vemulapalli M, Mullikin JC, Burgess SM.

Genetics. 2014 Sep;198(1):167-70. doi: 10.1534/genetics.114.166769. Epub 2014 Jul 9.

17.

Reduced N-acetyl-aspartate levels in schizophrenia patients with a younger onset age: a single-voxel 1H spectroscopy study.

Stanley JA, Vemulapalli M, Nutche J, Montrose DM, Sweeney JA, Pettegrew JW, MacMaster FP, Keshavan MS.

Schizophr Res. 2007 Jul;93(1-3):23-32. Epub 2007 May 10.

18.

Morphology of the orbitofrontal cortex in first-episode schizophrenia: relationship with negative symptomatology.

Lacerda AL, Hardan AY, Yorbik O, Vemulapalli M, Prasad KM, Keshavan MS.

Prog Neuropsychopharmacol Biol Psychiatry. 2007 Mar 30;31(2):510-6. Epub 2007 Jan 18.

PMID:
17239513
19.

An MRI study of increased cortical thickness in autism.

Hardan AY, Muddasani S, Vemulapalli M, Keshavan MS, Minshew NJ.

Am J Psychiatry. 2006 Jul;163(7):1290-2.

20.

An MRI study of minor physical anomalies in autism.

Hardan AY, Keshavan MS, Sreedhar S, Vemulapalli M, Minshew NJ.

J Autism Dev Disord. 2006 Jul;36(5):607-11.

PMID:
16609827

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