A Natural History Study of Timothy Syndrome

被引：0

作者：

Katherine W. Timothy ^{[1
]}

Rosemary Bauer ^{[2
]}

Kerry A. Larkin ^{[3
]}

Edward P. Walsh ^{[2
]}

Dominic J. Abrams ^{[4
]}

Cecilia Gonzalez Corcia ^{[5
]}

Alexandra Valsamakis ^{[5
]}

Geoffrey S. Pitt ^{[6
]}

Ivy E. Dick ^{[7
]}

Andy Golden ^{[8
]}

机构：

[1] Charitable Organization,The Timothy Syndrome Foundation

[2] National Institute of Health,Laboratory of Biochemistry and Genetics, National Institute of Diabetes, Digestive, and Kidney Diseases

[3] Northwestern University Feinberg School of Medicine,Division of Endocrinology, Metabolism, and Molecular Medicine, Department of Medicine

[4] Yale School of Medicine,Department of Cell Biology

[5] Harvard Medical School,Department of Cardiology

[6] Boston Children’s Hospital,Department of Cardiology

[7] Sainte Justine Hospital,Clinical Development and Medical Affairs

[8] Roche Diagnostics Solutions,Cardiovascular Research Institute

[9] Weill Cornell Medicine,Department of Physiology, School of Medicine

[10] University of Maryland,undefined

来源：

Orphanet Journal of Rare Diseases | / 19卷 / 1期

关键词：

Timothy syndrome; Long QT; Syndactyly; Hypoglycemia; Neurodevelopmental delay; mutation;

D O I：

10.1186/s13023-024-03445-x

中图分类号：

学科分类号：

摘要：

引用

共 50 条

[21] Natural history of Myhre syndrome
Yang, David Dawei
Rio, Marlene
Michot, Caroline
Boddaert, Nathalie
Yacoub, Wael
Garcelon, Nicolas
Thierry, Briac
Bonnet, Damien
Rondeau, Sophie
Herve, Dominique
Guey, Stephanie
Angoulvant, Francois
Cormier-Daire, Valerie
ORPHANET JOURNAL OF RARE DISEASES, 2022, 17 (01)
[22] The Natural History of Jeavons Syndrome
Smith, Kelsey M.
Youssef, Paul E.
Wirrell, Elaine C.
Wong-Kisiel, Lily C.
ANNALS OF NEUROLOGY, 2017, 82 : S157 - S157
[23] Natural history of Sanfilippo syndrome
Aburachis, Alyssa T.
Poe, Michele
Escolar, Maria L.
MOLECULAR GENETICS AND METABOLISM, 2019, 126 (02) : S18 - S18
[24] The Natural and Un-Natural History of Patients with Scimitar Syndrome: An Italian Multicentric Study
Vida, Vladimiro L.
Padrini, Maddalena
Padalino, Massimo A.
Stellin, Giovanni
CIRCULATION, 2012, 126 (21)
[25] Developmental delay in Rett syndrome: data from the natural history study
Neul, Jeffrey L.
Lane, Jane B.
Lee, Hye-Seung
Geerts, Suzanne
Barrish, Judy O.
Annese, Fran
Baggett, Lauren McNair
Barnes, Katherine
Skinner, Steven A.
Motil, Kathleen J.
Glaze, Daniel G.
Kaufmann, Walter E.
Percy, Alan K.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS, 2014, 6
[26] Behavioral profiles in Rett syndrome: Data from the natural history study
Buchanan, Caroline B.
Stallworth, Jennifer L.
Scott, Alexandra E.
Glaze, Daniel G.
Lane, Jane B.
Skinner, Steven A.
Tierney, Aubin E.
Percy, Alan K.
Neul, Jeffrey L.
Kaufmann, Walter E.
BRAIN & DEVELOPMENT, 2019, 41 (02): : 123 - 134
[27] Developmental delay in Rett syndrome: data from the natural history study
Jeffrey L Neul
Jane B Lane
Hye-Seung Lee
Suzanne Geerts
Judy O Barrish
Fran Annese
Lauren McNair Baggett
Katherine Barnes
Steven A Skinner
Kathleen J Motil
Daniel G Glaze
Walter E Kaufmann
Alan K Percy
Journal of Neurodevelopmental Disorders, 2014, 6
[28] THE NATURAL-HISTORY OF PRIMARY SJOGRENS SYNDROME - A CLINICAL-STUDY
PAVLIDIS, NA
DROSOS, AA
GALANOPOULOU, V
SIAMOPOULOS, C
TSIANOS, EB
MOUTSOPOULOS, HM
TERAPEVTICHESKII ARKHIV, 1988, 60 (04): : 64 - 67
[29] THE NATURAL-HISTORY OF TOURETTE SYNDROME - A FOLLOW-UP-STUDY
ERENBERG, G
CRUSE, RP
ROTHNER, AD
ANNALS OF NEUROLOGY, 1987, 22 (03) : 383 - 385
[30] SOTOS SYNDROME - A STUDY OF THE DIAGNOSTIC-CRITERIA AND NATURAL-HISTORY
COLE, TRP
HUGHES, HE
JOURNAL OF MEDICAL GENETICS, 1994, 31 (01) : 20 - 32

← 1 2 3 4 5 →