Madan S - Search Results

1

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.

Campeau PM, Lu JT, Sule G, Jiang MM, Bae Y, Madan S, Högler W, Shaw NJ, Mumm S, Gibbs RA, Whyte MP, Lee BH. Campeau PM, et al. Among authors: madan s. Hum Mol Genet. 2012 Nov 15;21(22):4904-9. doi: 10.1093/hmg/dds326. Epub 2012 Aug 8. Hum Mol Genet. 2012. PMID: 22875837 Free PMC article.

2

A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.

Madan S, Liu W, Lu JT, Sutton VR, Toth B, Joe P, Waterson JR, Gibbs RA, Van den Veyver IB, Lammer EJ, Campeau PM, Lee BH. Madan S, et al. Mol Genet Metab Rep. 2017 Jun 7;12:57-61. doi: 10.1016/j.ymgmr.2017.06.002. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28626639 Free PMC article.

3

Arginase overexpression in neurons and its effect on traumatic brain injury.

Madan S, Kron B, Jin Z, Al Shamy G, Campeau PM, Sun Q, Chen S, Cherian L, Chen Y, Munivez E, Jiang MM, Robertson C, Goodman C, Ratan RR, Lee B. Madan S, et al. Mol Genet Metab. 2018 Sep;125(1-2):112-117. doi: 10.1016/j.ymgme.2018.07.007. Epub 2018 Jul 25. Mol Genet Metab. 2018. PMID: 30055993 Free PMC article.

4

Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.

Burrage LC, Madan S, Li X, Ali S, Mohammad M, Stroup BM, Jiang MM, Cela R, Bertin T, Jin Z, Dai J, Guffey D, Finegold M; Members of the Urea Cycle Disorders Consortium (UCDC); Nagamani S, Minard CG, Marini J, Masand P, Schady D, Shneider BL, Leung DH, Bali D, Lee B. Burrage LC, et al. Among authors: madan s. JCI Insight. 2020 Feb 27;5(4):e132342. doi: 10.1172/jci.insight.132342. JCI Insight. 2020. PMID: 31990680 Free PMC article.

5

First prenatal diagnosis of X-linked lymphoproliferative disease.

Skare J, Madan S, Glaser J, Purtilo D, Nitowsky H, Pulijaal V, Milunsky A. Skare J, et al. Among authors: madan s. Am J Med Genet. 1992 Sep 1;44(1):79-81. doi: 10.1002/ajmg.1320440119. Am J Med Genet. 1992. PMID: 1355632

6

Characterization of three overlapping deletions causing X-linked lymphoproliferative disease.

Skare J, Wu BL, Madan S, Pulijaal V, Purtilo D, Haber D, Nelson D, Sylla B, Grierson H, Nitowsky H, et al. Skare J, et al. Among authors: madan s. Genomics. 1993 Apr;16(1):254-5. doi: 10.1006/geno.1993.1169. Genomics. 1993. PMID: 8387453 Free article.

7

Total Hip Arthroplasty for Osteonecrosis of the Femoral Head: A Mid-term Follow-Up in Patients From Northern India.

Parakh N, Saraf A, Bishnoi S, Singh SK, Jindal D, Madan S. Parakh N, et al. Among authors: madan s. Cureus. 2024 Sep 27;16(9):e70360. doi: 10.7759/cureus.70360. eCollection 2024 Sep. Cureus. 2024. PMID: 39469378 Free PMC article.

8

Assessment of Wearable Device Adherence for Monitoring Physical Activity in Older Adults: Pilot Cohort Study.

Ding H, Ho K, Searls E, Low S, Li Z, Rahman S, Madan S, Igwe A, Popp Z, Burk A, Wu H, Ding Y, Hwang PH, Anda-Duran I, Kolachalama VB, Gifford KA, Shih LC, Au R, Lin H. Ding H, et al. Among authors: madan s. JMIR Aging. 2024 Oct 25;7:e60209. doi: 10.2196/60209. JMIR Aging. 2024. PMID: 39454101 Free PMC article.

9

PET-CT Defined Micro-Vascular Dysfunction and Cardiac Allograft Vasculopathy Risk Factors in Heart Transplant Recipients.

Milwidsky A, Chan MA, Travin M, Gjelaj C, Saeed O, Vukelic S, Rochlani Y, Madan S, Shin JJ, Sims DB, Murthy S, Chavez P, Jorde UP, Patel SR. Milwidsky A, et al. Among authors: madan s. Clin Transplant. 2024 Oct;38(10):e15445. doi: 10.1111/ctr.15445. Clin Transplant. 2024. PMID: 39412491

10

Longitudinal structural changes in central serous chorioretinopathy: A multimodal imaging-based study.

Sahoo NK, Ong J, Selvam A, Maltsev D, Sacconi R, Venkatesh R, Reddy NG, Madan S, Tombolini B, Lima LH, Pramil V, Anantharaman G, Casella AM, Ledesma-Gil G, Waheed N, Borrelli E, Querques G, Chhablani J. Sahoo NK, et al. Among authors: madan s. Eur J Ophthalmol. 2024 Oct 3:11206721241287253. doi: 10.1177/11206721241287253. Online ahead of print. Eur J Ophthalmol. 2024. PMID: 39360332

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