Works by Ciccone, Carla

Results: 20

Quantitation of cytidine‐5′‐monophospho‐N‐acetylneuraminic acid in human leukocytes using LC–MS/MS: method development and validation.

Published in:

Biomedical Chromatography, 2020, v. 34, n. 2, p. N.PAG, doi. 10.1002/bmc.4735

By:

Fang, Meng;
Xu, Xin;
Zhang, Michael;
Shi, Yifan;
Gu, Guodong;
Liu, Wanjing;
Class, Bradley;
Ciccone, Carla;
Gahl, William A.;
Huizing, Marjan;
Carrillo, Nuria;
Wang, Amy Q.

Publication type:

Article

Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 410, doi. 10.1002/mgg3.300

By:

Garland, Jennifer;
Stephen, Joshi;
Class, Bradley;
Gruber, Angela;
Ciccone, Carla;
Poliak, Aaron;
Hayes, Christina P.;
Singhal, Vandana;
Slota, Christina;
Perreault, John;
Gavrilova, Ralitza;
Shrader, Joseph A.;
Chittiboina, Prashant;
Joe, Galen;
Heiss, John;
Gahl, William A.;
Huizing, Marjan;
Carrillo, Nuria;
Malicdan, May Christine V.

Publication type:

Article

Effects of microcurrent stimulation on Hyaline cartilage repair in immature male rats (Rattus norvegicus)

Published in:

2013

By:

de Campos Ciccone, Carla;
Zuzzi, Denise Cristina;
Grosso Neves, Lia Mara;
Mendonça, Josué Sampaio;
Joazeiro, Paulo Pinto;
Marretto Esquisatto, Marcelo Augusto

Publication type:

Journal Article

Effects of microcurrent stimulation on Hyaline cartilage repair in immature male rats (Rattus norvegicus).

Published in:

BMC Complementary & Alternative Medicine, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1472-6882-13-17

By:

de Campos Ciccone, Carla;
Zuzzi, Denise Cristina;
Grosso Neves, Lia Mara;
Mendonça, Josué Sampaio;
Joazeiro, Paulo Pinto;
Marretto Esquisatto, Marcelo Augusto

Publication type:

Article

Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.

Published in:

FASEB Journal, 2008, v. 22, n. 11, p. 3846, doi. 10.1096/fj.08-110890

By:

Klootwijk, Riko D.;
Savelkoul, Paul J. M.;
Ciccone, Carla;
Manoli, Irini;
Caplen, Natasha J.;
Krasnewich, Donna M.;
Gahl, William A.;
Huizing, Marjan

Publication type:

Article

Assessment of Thyroid Function in Patients With Alkaptonuria.

Published in:

JAMA Network Open, 2020, p. e201357, doi. 10.1001/jamanetworkopen.2020.1357

By:

Avadhanula, Shirisha;
Introne, Wendy J.;
Auh, Sungyoung;
Soldin, Steven J.;
Stolze, Brian;
Regier, Debra;
Ciccone, Carla;
Hannah-Shmouni, Fady;
Filie, Armando C.;
Burman, Kenneth D.;
Klubo-Gwiezdzinska, Joanna

Publication type:

Article

Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.

Published in:

Glycobiology, 2005, v. 15, n. 11, p. 1102, doi. 10.1093/glycob/cwi100

By:

Susan E. Sparks;
Carla Ciccone;
Molly Lalor;
Eduard Orvisky;
Riko Klootwijk;
Paul J. Savelkoul;
Marinos C. Dalakas;
Donna M. Krasnewich;
William A. Gahl;
Marjan Huizing

Publication type:

Article

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Published in:

Human Genetics, 2017, v. 136, n. 4, p. 409, doi. 10.1007/s00439-017-1767-x

By:

Vilboux, Thierry;
Gahl, William;
Berger, Seth;
Ciccone, Carla;
Simon, Karen;
Malicdan, May;
Billington, Charles;
Fischer, Roxanne;
Huizing, Marjan;
Introne, Wendy;
Smith, Ann;
Gropman, Andrea;
Blancato, Jan;
Mullikin, James

Publication type:

Article

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.

Published in:

Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1072784

By:

Kuptanon, Chulaluk;
Morimoto, Marie;
Nicoli, Elena-Raluca;
Stephen, Joshi;
Yarnell, David S.;
Dorward, Heidi;
Owen, William;
Parikh, Suhag;
Ozbek, Namik Yasar;
Malbora, Baris;
Ciccone, Carla;
Gunay-Aygun, Meral;
Gahl, William A.;
Introne, Wendy J.;
Malicdan, May Christine V.

Publication type:

Article

Mutation Update for GNE Gene Variants Associated with GNE Myopathy.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 915, doi. 10.1002/humu.22583

By:

Celeste, Frank V.;
Vilboux, Thierry;
Ciccone, Carla;
Dios, John Karl;
Malicdan, May Christine V.;
Leoyklang, Petcharat;
McKew, John C.;
Gahl, William A.;
Carrillo‐Carrasco, Nuria;
Huizing, Marjan

Publication type:

Article

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.

Published in:

BMC Neurology, 2007, v. 7, p. 3, doi. 10.1186/1471-2377-7-3

By:

Sparks, Susan;
Rakocevic, Goran;
Joe, Galen;
Manoli, Irini;
Shrader, Joseph;
Harris-Love, Michael;
Sonies, Barbara;
Ciccone, Carla;
Dorward, Heidi;
Krasnewich, Donna;
Huizing, Marjan;
Dalakas, Marinos C.;
Gahl, William A.

Publication type:

Article

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022861

By:

Vilboux, Thierry;
Ciccone, Carla;
Blancato, Jan K.;
Cox, Gerald F.;
Deshpande, Charu;
Introne, Wendy J.;
Gahl, William A.;
Smith, Ann C. M.;
Huizing, Marjan

Publication type:

Article

A metabolomics-based approach for non-invasive screening of fetal central nervous system anomalies.

Published in:

Metabolomics, 2018, v. 14, n. 6, p. 1, doi. 10.1007/s11306-018-1370-8

By:

Troisi, Jacopo;
Landolfi, Annamaria;
Sarno, Laura;
Richards, Sean;
Symes, Steven;
Adair, David;
Ciccone, Carla;
Scala, Giovanni;
Martinelli, Pasquale;
Guida, Maurizio

Publication type:

Article

A metabolomics-based approach for non-invasive diagnosis of chromosomal anomalies.

Published in:

Metabolomics, 2017, v. 13, n. 11, p. 1, doi. 10.1007/s11306-017-1274-z

By:

Troisi, Jacopo;
Sarno, Laura;
Martinelli, Pasquale;
Di Carlo, Costantino;
Landolfi, Annamaria;
Scala, Giovanni;
Rinaldi, Maurizio;
D'Alessandro, Pietro;
Ciccone, Carla;
Guida, Maurizio

Publication type:

Article

Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy.

Published in:

Glycoconjugate Journal, 2013, v. 30, n. 6, p. 609, doi. 10.1007/s10719-012-9459-1

By:

Yardeni, Tal;
Jacobs, Katherine;
Niethamer, Terren;
Ciccone, Carla;
Anikster, Yair;
Kurochkina, Natalya;
Gahl, William;
Huizing, Marjan

Publication type:

Article

Noninvasive screening for congenital heart defects using a serum metabolomics approach.

Published in:

Prenatal Diagnosis, 2021, v. 41, n. 6, p. 743, doi. 10.1002/pd.5893

By:

Troisi, Jacopo;
Cavallo, Pierpaolo;
Richards, Sean;
Symes, Steven;
Colucci, Angelo;
Sarno, Laura;
Landolfi, Annamaria;
Scala, Giovanni;
Adair, David;
Ciccone, Carla;
Maruotti, Giuseppe M.;
Martinelli, Pasquale;
Guida, Maurizio

Publication type:

Article

Noninvasive screening for congenital heart defects using a serum metabolomics approach.

Published in:

Prenatal Diagnosis, 2021, v. 41, n. 6, p. 743, doi. 10.1002/pd.5893

By:

Troisi, Jacopo;
Cavallo, Pierpaolo;
Richards, Sean;
Symes, Steven;
Colucci, Angelo;
Sarno, Laura;
Landolfi, Annamaria;
Scala, Giovanni;
Adair, David;
Ciccone, Carla;
Maruotti, Giuseppe M.;
Martinelli, Pasquale;
Guida, Maurizio

Publication type:

Article

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2383, doi. 10.1002/ajmg.a.37602

By:

Yeetong, Patra;
Vilboux, Thierry;
Ciccone, Carla;
Boulier, Kristin;
Schnur, Rhonda E.;
Gahl, William A.;
Huizing, Marjan;
Laje, Gonzalo;
Smith, Ann C. M.

Publication type:

Article

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia.

Published in:

2011

By:

Cullinane, Andrew R;
Vilboux, Thierry;
O'Brien, Kevin;
Curry, James A;
Maynard, Dawn M;
Carlson-Donohoe, Hannah;
Ciccone, Carla;
Markello, Thomas C;
Gunay-Aygun, Meral;
Huizing, Marjan;
Gahl, William A;
NISC Comparative Sequencing Program

Publication type:

Case Study

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.

Published in:

2007

By:

Galeano, Belinda;
Klootwijk, Riko;
Manoli, Irini;
MaoSen Sun;
Ciccone, Carla;
Darvish, Daniel;
Starost, Matthew F.;
Zerfas, Patricia M.;
Hoffmann, Victoria J.;
Hoogstraten-Miller, Shelley;
Krasnewich, Donna M.;
Gahl, William A.;
Huizing, Marjan;
Sun, MaoSen

Publication type:

journal article