Sandesh C.S. Nagamani: search on Z-Library

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1

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

Nagamani, Sandesh Chakravarthy Sreenath, Erez, Ayelet, Shen, Joseph, Li, Chumei, Roeder, Elizabeth, Cox, Sarah, Karaviti, Lefkothea, Pearson, Margret, Kang, Sung-Hae L, Sahoo, Trilochan

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 601 KB

english, 2009

2

Requirement of argininosuccinate lyase for systemic nitric oxide production

Erez, Ayelet, Nagamani, Sandesh C S, Shchelochkov, Oleg A, Premkumar, Muralidhar H, Campeau, Philippe M, Chen, Yuqing, Garg, Harsha K, Li, Li, Mian, Asad, Bertin, Terry K, Black, Jennifer O, Zeng, Hen

Journal:

Nature Medicine

Year:

2011

Language:

english

File:

PDF, 991 KB

english, 2011

3

A metabolic link between the urea cycle and cancer cell proliferation

Nagamani, Sandesh, Erez, Ayelet

Journal:

Molecular & Cellular Oncology

Year:

2016

Language:

english

File:

PDF, 1.88 MB

english, 2016

4

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

Aref-Eshghi, Erfan, Bend, Eric G., Hood, Rebecca L., Schenkel, Laila C., Carere, Deanna Alexis, Chakrabarti, Rana, Nagamani, Sandesh C. S., Cheung, Sau Wai, Campeau, Philippe M., Prasad, Chitra, Siu,

Journal:

Nature Communications

Year:

2018

Language:

english

File:

PDF, 2.97 MB

english, 2018

5

Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay

Jun Gu, Sandesh C. Sreenath Nagamani, Vicki L. Hopwood, Beatriz Sanchez, Yasaman Saeidinejad, Zhishuo Ou, Sandra Peacock, Dorothy K. Grange, Pawel Stankiewicz, Sau Wai Cheung

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 299 KB

english, 2011

6

Argininosuccinate lyase deficiency—Argininosuccinic aciduria and beyond

Ayelet Erez, Sandesh C. Sreenath Nagamani, Brendan Lee

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2011

Language:

english

File:

PDF, 374 KB

english, 2011

7

Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

Nagamani, Sandesh Chakravarthy Sreenath, Erez, Ayelet, Eng, Christine, Ou, Zhishuo, Chinault, Craig, Workman, Laura, Coldwell, James, Stankiewicz, Pawel, Patel, Ankita, Lupski, James R

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 298 KB

english, 2008

8

Phenotypic manifestations of copy number variation in chromosome 16p13.11

Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bader, Patricia, Lalani, Seema R, Scott, Daryl A, Scaglia, Fernando, Plon, Sharon E, Tsai, Chun-Hui, Reimschisel, Tyler, Roeder, Elizabeth

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 452 KB

english, 2010

9

The phenotype of recurrent 10q22q23 deletions and duplications

van Bon, Bregje W M, Balciuniene, Jorune, Fruhman, Gary, Nagamani, Sandesh Chakravarthy Sreenath, Broome, Diane L, Cameron, Elizabeth, Martinet, Danielle, Roulet, Eliane, Jacquemont, Sebastien, Beckma

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 568 KB

english, 2011

10

Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria

Sandesh C.S. Nagamani, Philippe M. Campeau, Oleg A. Shchelochkov, Muralidhar H. Premkumar, Kilian Guse, Nicola Brunetti-Pierri, Yuqing Chen, Qin Sun, Yaoping Tang, Donna Palmer, Anilkumar K. Reddy, Li

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 588 KB

english, 2012

11

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani, Shweta U. Dhar, Katarzyna E. Kołodziejska, Avinash V. Dharmadhikari, M. Lance Cooper, Joanna Wiszniewska, Feng Zhang, Marjorie A. Withers, Carlo

Journal:

Year:

2011

Language:

english

File:

PDF, 3.11 MB

english, 2011

12

Hereditary hemorrhagic telangiectasia with inherited thrombophilia

Sandesh C. Sreenath Nagamani, Madappa N. Kundranda, Hamed A. Daw

Journal:

European Journal of Internal Medicine

Year:

2006

Language:

english

File:

PDF, 53 KB

english, 2006

13

Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported?

Shailly Jain-Ghai, Sandesh C. Sreenath Nagamani, Susan Blaser, Komudi Siriwardena, Annette Feigenbaum

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 492 KB

english, 2011

14

Corrigendum to “Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported?” [Mol. Genet. Metab 104 (2011) 107–111]

Shailly Jain-Ghai, Sandesh C. Sreenath Nagamani, Susan Blaser, Komudi Siriwardena, Annette Feigenbaum

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 92 KB

english, 2012

15

The practice of adult genetics: A 7-year experience from a single center

Eble, Tanya N., Nagamani, Sandesh C.S., Franco, Luis M., Plon, Sharon E., Blazo, Maria, Dhar, Shweta U.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 100 KB

english, 2013

16

Optimizing therapy for argininosuccinic aciduria

Sandesh CS Nagamani, Brendan Lee, Ayelet Erez

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 492 KB

english, 2012

17

A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria

Sandesh C.S. Nagamani, Oleg A. Shchelochkov, Mary A. Mullins, Susan Carter, Brendan C. Lanpher, Qin Sun, Soledad Kleppe, Ayelet Erez, E. O'Brian Smith, Juan C. Marini, Brendan Lee

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 476 KB

english, 2012

18

DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution

Laura J. Dumas, Majesta S. O’Bleness, Jonathan M. Davis, C. Michael Dickens, Nathan Anderson, J.G. Keeney, Jay Jackson, Megan Sikela, Armin Raznahan, Jay Giedd, Judith Rapoport, Sandesh S.C. Nagamani,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 5.37 MB

english, 2012

19

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

Nagamani, Sandesh C S, Erez, Ayelet, Ben-Zeev, Bruria, Frydman, Moshe, Winter, Susan, Zeller, Robert, El-Khechen, Dima, Escobar, Luis, Stankiewicz, Pawel, Patel, Ankita, Wai Cheung, Sau

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 295 KB

english, 2013

20

Small genomic rearrangements involvingFMR1support the importance of its gene dosage for normal neurocognitive function

Nagamani, Sandesh C. S., Erez, Ayelet, Probst, Frank J., Bader, Patricia, Evans, Patricia, Baker, Linda A., Fang, Ping, Bertin, Terry, Hixson, Patricia, Stankiewicz, Pawel, Nelson, David, Patel, Ankit

Journal:

Year:

2012

Language:

english

File:

PDF, 364 KB

english, 2012

21

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44

Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bay, Carolyn, Pettigrew, Anjana, Lalani, Seema R, Herman, Kristin, Graham, Brett H, Nowaczyk, Malgorzata JM, Proud, Monica, Craigen, William J, Hopkins, Bob

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 236 KB

english, 2012

22

Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes

Berry, Susan A., Lichter-Konecki, Uta, Diaz, George A., McCandless, Shawn E., Rhead, William, Smith, Wendy, LeMons, Cynthia, Nagamani, Sandesh C.S., Coakley, Dion F., Mokhtarani, Masoud, Scharschmidt,

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 959 KB

english, 2014

23

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

Campbell, Ian M., Yuan, Bo, Robberecht, Caroline, Pfundt, Rolph, Szafranski, Przemyslaw, McEntagart, Meriel E., Nagamani, Sandesh C.S., Erez, Ayelet, Bartnik, Magdalena, Wiśniowiecka-Kowalnik, Barbara

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.49 MB

english, 2014

24

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

Peddibhotla, Sirisha, Nagamani, Sandesh CS, Erez, Ayelet, Hunter, Jill V, Holder Jr, J Lloyd, Carlin, Mary E, Bader, Patricia I, Perras, Helene MF, Allanson, Judith E, Newman, Leslie, Simpson, Gayle,

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 823 KB

english, 2015

25

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders

Burrage, Lindsay C., Jain, Mahim, Gandolfo, Laura, Lee, Brendan H., Nagamani, Sandesh C.S.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 199 KB

english, 2014

26

Treatment-related signs and symptoms among patients with urea cycle disorders (UCDs) during treatment with sodium phenylbutyrate and glycerol phenylbutyrate

Nagamani, Sandesh C., Diaz, George A., Rhead, William J., Berry, Sue A., Le Mons, Cindy, Lichter-Konecki, Uta, Bartley, James A., Feigenbaum, Annette, Schulze, Andreas, Longo, Nicola, Berquist, Willia

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 44 KB

english, 2014

27

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 Mutation

Shapiro, Jay R, Lietman, Caressa, Grover, Monica, Lu, James T, Nagamani, Sandesh CS, Dawson, Brian C, Baldridge, Dustin M, Bainbridge, Matthew N, Cohn, Dan H, Blazo, Maria, Roberts, Timothy T, Brennen

Journal:

Journal of Bone and Mineral Research

Year:

2013

Language:

english

File:

PDF, 1.00 MB

english, 2013

28

Argininosuccinate lyase deficiency

Nagamani, Sandesh C.S., Erez, Ayelet, Lee, Brendan

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 612 KB

english, 2012

29

Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency

Burrage, Lindsay C., Sun, Qin, Elsea, Sarah H., Jiang, Ming-Ming, Nagamani, Sandesh C.S., Frankel, Arthur E., Stone, Everett, Alters, Susan E., Johnson, Dale E., Rowlinson, Scott W., Georgiou, George,

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.27 MB

english, 2015

30

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials

Nagamani, Sandesh C.S., Diaz, George A., Rhead, William, Berry, Susan A., Le Mons, Cynthia, Lichter-Konecki, Uta, Bartley, James, Feigenbaum, Annette, Schulze, Andreas, Longo, Nicola, Berquist, Willia

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 525 KB

english, 2015

31

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder

Lee, Brendan, Diaz, George A., Rhead, William, Lichter-Konecki, Uta, Feigenbaum, Annette, Berry, Susan A., Le Mons, Cindy, Bartley, James A., Longo, Nicola, Nagamani, Sandesh C., Berquist, William, Ga

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 1.30 MB

english, 2015

32

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome

Posey, Jennifer E., Burrage, Lindsay C., Campeau, Philippe M., Lu, James T., Eble, Tanya N., Kratz, Lisa, Schlesinger, Alan E., Gibbs, Richard A., Lee, Brendan H., Nagamani, Sandesh C.S.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1018 KB

english, 2015

33

Plasma Glutamine Is a Minor Precursor for the Synthesis of Citrulline: A Multispecies Study

Marini, Juan C, Agarwal, Umang, Didelija, Inka C, Azamian, Mahshid, Stoll, Barbara, Nagamani, Sandesh CS

Journal:

Journal of Nutrition

Year:

2017

Language:

english

File:

PDF, 753 KB

english, 2017

34

Generalized Metabolic Bone Disease and Fracture Risk in Rothmund-Thomson Syndrome

Cao, Felicia, Lu, Linchao, Abrams, Steven A., Hawthorne, Keli M., Tam, Allison, Jin, Weidong, Dawson, Brian, Shypailo, Roman, Liu, Hao, Lee, Brendan, Nagamani, Sandesh CS, Wang, Lisa L.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 914 KB

english, 2017

35

Facial papules as a marker of cancer predisposition syndrome

Bellur, Sunil, Jenkinson, Helena, Nagamani, Sandesh C.S.

Journal:

Journal of the American Academy of Dermatology

Year:

2017

Language:

english

File:

PDF, 307 KB

english, 2017

36

Response to Srilatha et al.

Nagamani, Sandesh C.S., Erez, Ayelet, Lee, Brendan

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 202 KB

english, 2012

37

A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers

Nagamani, Sandesh C S, Agarwal, Umang, Tam, Allison, Azamian,, Mahshid, McMeans, Ann, Didelija, Inka C, Mohammad, Mahmoud A, Marini, Juan C

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 221 KB

english, 2017

38

Serum sclerostin levels in adults with osteogenesis imperfecta: comparison with normal individuals and response to teriparatide therapy

Nicol, Lindsey, Wang, Ying, Smith, Rosamund, Sloan, John, Nagamani, Sandesh C.S., Shapiro, Jay, Lee, Brendan, Orwoll, Eric

Journal:

Journal of Bone and Mineral Research

Year:

2017

Language:

english

File:

PDF, 1.14 MB

english, 2017

39

Identification of novel candidate disease genes from de novo exonic copy number variants

Gambin, Tomasz, Yuan, Bo, Bi, Weimin, Liu, Pengfei, Rosenfeld, Jill A., Coban-Akdemir, Zeynep, Pursley, Amber N., Nagamani, Sandesh C. S., Marom, Ronit, Golla, Sailaja, Dengle, Lauren, Petrie, Heather

Journal:

Genome Medicine

Year:

2017

Language:

english

File:

PDF, 3.33 MB

english, 2017

40

Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1

Tam, Allison, Sliepka, Joseph M., Bellur, Sunil, Bray, Collin Douglas, Lincoln, Christie M., Nagamani, Sandesh C.S.

Journal:

Clinical Imaging

Year:

2018

Language:

english

File:

PDF, 324 KB

english, 2018

41

Swaiman's Pediatric Neurology || Inborn Errors of Urea Synthesis

Nagamani, Sandesh C.S.

Year:

2017

Language:

english

File:

PDF, 374 KB

english, 2017

42

Alterations in non-type I collagen biomarkers in osteogenesis imperfecta

Nicol, Lindsey, Morar, Patrick, Wang, Ying, Henriksen, Kim, Sun, Shu, Karsdal, Morten, Smith, Rosamund, Nagamani, Sandesh C.S., Shapiro, Jay, Lee, Brendan, Orwoll, Eric

Journal:

Year:

2018

Language:

english

File:

PDF, 922 KB

english, 2018

43

A case report of hamartomatous polyposis in an individual with Neurofibromatosis type 1

Boulier, Kristin, Erwin, Deanna J., Nagamani, Sandesh, Eble, Tanya N.

Journal:

Clinical Case Reports

Year:

2018

Language:

english

File:

PDF, 162 KB

english, 2018

44

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

Baruteau, Julien, Diez‐Fernandez, Carmen, Lerner, Shaul, Ranucci, Giusy, Gissen, Paul, Dionisi‐Vici, Carlo, Nagamani, Sandesh, Erez, Ayelet, Häberle, Johannes

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 2.14 MB

english, 2019

45

Impact of diagnosis and therapy on cognitive function in urea cycle disorders

Posset, Roland, Gropman, Andrea L., Nagamani, Sandesh C.S., Burrage, Lindsay C., Bedoyan, Jirair K., Wong, Derek, Berry, Gerard T., Baumgartner, Matthias R., Yudkoff, Marc, Zielonka, Matthias, Hoffman

Journal:

Annals of Neurology

Year:

2019

Language:

english

File:

PDF, 984 KB

english, 2019

46

Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta

Murali, Chaya N., Cuthbertson, David, Slater, Brady, Nguyen, Dianne, Turner, Alicia, Harris, Gerald, Sutton, V. Reid, Lee, Brendan, Nagamani, Sandesh C. S.

Journal:

Genetics in Medicine

Year:

2019

File:

PDF, 407 KB

2019

47

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

Zielonka, Matthias, Garbade, Sven F., Gleich, Florian, Okun, Jürgen G., Nagamani, Sandesh C. S., Gropman, Andrea L., Hoffmann, Georg F., Kölker, Stefan, Posset, Roland

Journal:

Year:

2020

Language:

english

File:

PDF, 610 KB

english, 2020

48

Malocclusion traits and oral healthârelated quality of life in children with osteogenesis imperfecta

Najirad, Mohammadamin, Madathil, Sreenath Arekunnath, Rauch, Frank, Sutton, V. Reid, Lee, Brendan, Retrouvey, Jean-Marc, Esfandiari, Shahrokh, Lee, Brendan, Sutton, V. Reid, Nagamani, Sandesh C.S., Ra

Journal:

Journal of the American Dental Association

Year:

2020

File:

PDF, 890 KB

2020

49

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

Posset, Roland, Garbade, Sven F., Gleich, Florian, Gropman, Andrea L., de Lonlay, Pascale, Hoffmann, Georg F., Garcia-Cazorla, Angeles, Nagamani, Sandesh C. S., Baumgartner, Matthias R., Schulze, Andr

Journal:

Scientific Reports

Year:

2020

File:

PDF, 1.20 MB

2020

50

A Multicenter Study of Intramedullary Rodding in Osteogenesis Imperfecta

Rodriguez Celin, Mercedes, Kruger, Karen M., Caudill, Angela, Nagamani, Sandesh C.S., Harris, Gerald F., Smith, Peter A.

Journal:

JBJS Open Access

Year:

2020

File:

PDF, 824 KB

2020

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