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1.

Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.

Shchelochkov, Oleg A; Farmer, Cristan A; Chlebowski, Colby; Adedipe, Dee; Ferry, Susan; Manoli, Irini; Pass, Alexandra; McCoy, Samantha; Van Ryzin, Carol; Sloan, Jennifer; Thurm, Audrey; Venditti, Charles P.

Mol Psychiatry; 2024 Jan 11.

Artículo en Inglés | MEDLINE | ID: mdl-38200289

2.

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.

Manoli, Irini; Gebremariam, Abigael; McCoy, Samantha; Pass, Alexandra R; Gagné, Jack; Hall, Camryn; Ferry, Susan; Van Ryzin, Carol; Sloan, Jennifer L; Sacchetti, Elisa; Catesini, Giulio; Rizzo, Cristiano; Martinelli, Diego; Spada, Marco; Dionisi-Vici, Carlo; Venditti, Charles P.

J Inherit Metab Dis; 46(4): 554-572, 2023 07.

Artículo en Inglés | MEDLINE | ID: mdl-37243446

3.

Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.

Pangilinan, Faith; Watkins, David; Bernard, David; Chen, Yue; Dong, Ningzheng; Wu, Qingyu; Ozel-Abaan, Hatice; Kaur, Manjit; Caggana, Michele; Morrissey, Mark; Browne, Marilyn L; Mills, James L; Van Ryzin, Carol; Shchelochkov, Oleg; Sloan, Jennifer; Venditti, Charles P; Sarafoglou, Kyriakie; Rosenblatt, David S; Kay, Denise M; Brody, Lawrence C.

Am J Med Genet A; 188(4): 1124-1141, 2022 04.

Artículo en Inglés | MEDLINE | ID: mdl-35107211

4.

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.

Whitman, Mary C; Barry, Brenda J; Robson, Caroline D; Facio, Flavia M; Van Ryzin, Carol; Chan, Wai-Man; Lehky, Tanya J; Thurm, Audrey; Zalewski, Christopher; King, Kelly A; Brewer, Carmen; Almpani, Konstantinia; Lee, Janice S; Delaney, Angela; FitzGibbon, Edmond J; Lee, Paul R; Toro, Camilo; Paul, Scott M; Abdul-Rahman, Omar A; Webb, Bryn D; Jabs, Ethylin Wang; Moller, Hans Ulrik; Larsen, Dorte Ancher; Antony, Jayne H; Troedson, Christopher; Ma, Alan; Ragnhild, Glad; Wirgenes, Katrine V; Tham, Emma; Kvarnung, Malin; Maarup, Timothy James; MacKinnon, Sarah; Hunter, David G; Collins, Francis S; Manoli, Irini; Engle, Elizabeth C.

Hum Genet; 140(12): 1709-1731, 2021 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-34652576

5.

Severity modeling of propionic acidemia using clinical and laboratory biomarkers.

Shchelochkov, Oleg A; Manoli, Irini; Juneau, Paul; Sloan, Jennifer L; Ferry, Susan; Myles, Jennifer; Schoenfeld, Megan; Pass, Alexandra; McCoy, Samantha; Van Ryzin, Carol; Wenger, Olivia; Levin, Mark; Zein, Wadih; Huryn, Laryssa; Snow, Joseph; Chlebowski, Colby; Thurm, Audrey; Kopp, Jeffrey B; Chen, Kong Y; Venditti, Charles P.

Genet Med; 23(8): 1534-1542, 2021 08.

Artículo en Inglés | MEDLINE | ID: mdl-34007002

6.

1-¹³C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).

Manoli, Irini; Pass, Alexandra R; Harrington, Elizabeth A; Sloan, Jennifer L; Gagné, Jack; McCoy, Samantha; Bell, Sarah L; Hattenbach, Jacob D; Leitner, Brooks P; Duckworth, Courtney J; Fletcher, Laura A; Cassimatis, Thomas M; Galarreta, Carolina I; Thurm, Audrey; Snow, Joseph; Van Ryzin, Carol; Ferry, Susan; Mew, Nicholas Ah; Shchelochkov, Oleg A; Chen, Kong Y; Venditti, Charles P.

Genet Med; 23(8): 1522-1533, 2021 08.

Artículo en Inglés | MEDLINE | ID: mdl-33820958

7.

Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.

Lehky, Tanya; Joseph, Reversa; Toro, Camilo; Wu, Tianxia; Van Ryzin, Carol; Gropman, Andrea; Facio, Flavia M; Webb, Bryn D; Jabs, Ethylin W; Barry, Brenda S; Engle, Elizabeth C; Collins, Francis S; Manoli, Irini.

Muscle Nerve; 63(4): 516-524, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33389762

8.

Chronic kidney disease in propionic acidemia.

Shchelochkov, Oleg A; Manoli, Irini; Sloan, Jennifer L; Ferry, Susan; Pass, Alexandra; Van Ryzin, Carol; Myles, Jennifer; Schoenfeld, Megan; McGuire, Peter; Rosing, Douglas R; Levin, Mark D; Kopp, Jeffrey B; Venditti, Charles P.

Genet Med; 21(12): 2830-2835, 2019 12.

Artículo en Inglés | MEDLINE | ID: mdl-31249402

9.

The Key to Adrenal Insufficiency Education: Repetition, Repetition, Repetition.

Keil, Margaret F; Van Ryzin, Carol.

Pediatr Endocrinol Rev; 14(Suppl 2): 448-453, 2017 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-28647949

10.

Correction to: 1-¹³C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).

Manoli, Irini; Pass, Alexandra R; Harrington, Elizabeth A; Sloan, Jennifer L; Gagné, Jack; McCoy, Samantha; Bell, Sarah L; Hattenbach, Jacob D; Leitner, Brooks P; Duckworth, Courtney J; Fletcher, Laura A; Cassimatis, Thomas M; Galarreta, Carolina I; Thurm, Audrey; Snow, Joseph; Van Ryzin, Carol; Ferry, Susan; Mew, Nicholas Ah; Shchelochkov, Oleg A; Chen, Kong Y; Venditti, Charles P.

Genet Med; 23(11): 2233, 2021 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-33972722

11.

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.

Tenney, Alan P; Di Gioia, Silvio Alessandro; Webb, Bryn D; Chan, Wai-Man; de Boer, Elke; Garnai, Sarah J; Barry, Brenda J; Ray, Tammy; Kosicki, Michael; Robson, Caroline D; Zhang, Zhongyang; Collins, Thomas E; Gelber, Alon; Pratt, Brandon M; Fujiwara, Yuko; Varshney, Arushi; Lek, Monkol; Warburton, Peter E; Van Ryzin, Carol; Lehky, Tanya J; Zalewski, Christopher; King, Kelly A; Brewer, Carmen C; Thurm, Audrey; Snow, Joseph; Facio, Flavia M; Narisu, Narisu; Bonnycastle, Lori L; Swift, Amy; Chines, Peter S; Bell, Jessica L; Mohan, Suresh; Whitman, Mary C; Staffieri, Sandra E; Elder, James E; Demer, Joseph L; Torres, Alcy; Rachid, Elza; Al-Haddad, Christiane; Boustany, Rose-Mary; Mackey, David A; Brady, Angela F; Fenollar-Cortés, María; Fradin, Melanie; Kleefstra, Tjitske; Padberg, George W; Raskin, Salmo; Sato, Mario Teruo; Orkin, Stuart H; Parker, Stephen C J.

Nat Genet; 55(7): 1149-1163, 2023 07.

Artículo en Inglés | MEDLINE | ID: mdl-37386251

12.

Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Chen, Wuyan; Xu, Zhi; Nishitani, Miki; Van Ryzin, Carol; McDonnell, Nazli B; Merke, Deborah P.

Hum Genet; 131(12): 1889-94, 2012 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-22886582

13.

Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.

Chen, Wuyan; Xu, Zhi; Sullivan, Annie; Finkielstain, Gabriela P; Van Ryzin, Carol; Merke, Deborah P; McDonnell, Nazli B.

Clin Chem; 58(2): 421-30, 2012 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-22156666

14.

McCune-Albright Syndrome: An Overview of Clinical Features.

Brillante, Beth; Guthrie, Lori; Van Ryzin, Carol.

J Pediatr Nurs; 30(5): 815-7, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-26209174

15.

Hypoglycemia during acute illness in children with classic congenital adrenal hyperplasia.

Keil, Margaret F; Bosmans, Charlotte; Van Ryzin, Carol; Merke, Deborah P.

J Pediatr Nurs; 25(1): 18-24, 2010 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-20117671

16.

Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.

Sadeghi, Neda; Hutchinson, Elizabeth; Van Ryzin, Carol; FitzGibbon, Edmond J; Butman, John A; Webb, Bryn D; Facio, Flavia; Brooks, Brian P; Collins, Francis S; Jabs, Ethylin Wang; Engle, Elizabeth C; Manoli, Irini; Pierpaoli, Carlo.

Brain Commun; 2(1): fcaa014, 2020.

Artículo en Inglés | MEDLINE | ID: mdl-32328577

17.

Adrenal insufficiency: causes and prevention of adrenal crisis.

Van Ryzin, Carol.

J Pediatr Nurs; 28(6): 620-1, 2013.

Artículo en Inglés | MEDLINE | ID: mdl-23994548

18.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Di Gioia, Silvio Alessandro; Connors, Samantha; Matsunami, Norisada; Cannavino, Jessica; Rose, Matthew F; Gilette, Nicole M; Artoni, Pietro; de Macena Sobreira, Nara Lygia; Chan, Wai-Man; Webb, Bryn D; Robson, Caroline D; Cheng, Long; Van Ryzin, Carol; Ramirez-Martinez, Andres; Mohassel, Payam; Leppert, Mark; Scholand, Mary Beth; Grunseich, Christopher; Ferreira, Carlos R; Hartman, Tyler; Hayes, Ian M; Morgan, Tim; Markie, David M; Fagiolini, Michela; Swift, Amy; Chines, Peter S; Speck-Martins, Carlos E; Collins, Francis S; Jabs, Ethylin Wang; Bönnemann, Carsten G; Olson, Eric N; Carey, John C; Robertson, Stephen P; Manoli, Irini; Engle, Elizabeth C.

Nat Commun; 8: 16077, 2017 07 06.

Artículo en Inglés | MEDLINE | ID: mdl-28681861

19.

A phase 2 study of Chronocort, a modified-release formulation of hydrocortisone, in the treatment of adults with classic congenital adrenal hyperplasia.

Mallappa, Ashwini; Sinaii, Ninet; Kumar, Parag; Whitaker, Martin J; Daley, Lori-Ann; Digweed, Dena; Eckland, David J A; Van Ryzin, Carol; Nieman, Lynnette K; Arlt, Wiebke; Ross, Richard J; Merke, Deborah P.

J Clin Endocrinol Metab; 100(3): 1137-45, 2015 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-25494662

20.

Nonclassic congenital adrenal hyperplasia: an overview.