Results 81 to 90 of about 3,804 (178)

Multimodality Imaging of LEOPARD Syndrome: Myocardial Hypertrophy With Diffuse Coronary Artery Dilation. [PDF]

JACC Case Rep, 2022
Yang D, Wang Y, Lu M.
europepmc   +1 more source

LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease

, 2004
LEOPARD syndrome, one of many cardiocutaneous syndromes, is an acronym for some of the obvious manifestations of the disease, such as lentigines or ocular hypertelorism.
Emanuela Conti, Anna Sarkozy, Sarkozy, Anna, Noralane M Lindor, Antonio Pizzuti, Conti, Emanuela, Pizzuti, Antonio, Lindor, Noralane M, Marineh Yagubyan, Jean M Panneton, Yagubyan, Marineh, Panneton, Jean M   +11 more
core   +1 more source

Out-of-hospital cardiac arrest and survival in a patient with Noonan syndrome and multiple lentigines: a case report

Journal of Medical Case Reports, 2019
Background A 9-year-old Arabic boy attending middle school presented with an out-of-hospital cardiac arrest due to ventricular fibrillation recorded by Holter electrocardiographic monitoring.
Christian Eichhorn, Inga Voges, Piers E. F. Daubeney   +2 more
doaj   +1 more source

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

, 2010
The generation of reprogrammed induced pluripotent stem cells (iPSCs) from patients with defined genetic disorders holds the promise of increased understanding of the aetiologies of complex diseases and may also facilitate the development of novel ...
Jie Su, Lisa J. Edelmann, Betty Chang, Sevilla, Ana, Lemischka, Ihor R., Aaron D. Kaplan, Sunita L. D’Souza, Edelmann, Lisa J., Adler, Eric D., Tartaglia, Marco, Marco Tartaglia, Klaske D. Lichtenbelt, Dsouza, Sunita L., Carvajal-Vergara, Xonia, Ana Sevilla, Pardo, Sherly, Ihor R. Lemischka, Chang, Betty, Gelb, Bruce D., Lei Yang, Kaplan, Aaron D., Ninette Cohen, Lichtenbelt, Klaske D., Lee, Dung Fang, Eric D. Adler, YongChao Ge, Xonia Carvajal-Vergara, Roye Rozov, Avinash Waghray, Christoph Schaniel, Ge, Yongchao, Sherly Pardo, Yen-Sin Ang, Bruce D. Gelb, Yang, Lei, Cohen, Ninette, Waghray, Avinash, Dung-Fang Lee, Rozov, Roye, Su, Jie, Ang, Yen Sin, Schaniel, Christoph   +41 more
core   +1 more source

Case Report - Neurofibromatosis-Noonan Syndrome or LEOPARD Syndrome? A Clinical Dilemma

, 2003
Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself.
Tullu MS, Muranjan MN, Kantharia VC, Parmar RC, Sahu DR, Bavdekar SB, (Late) Bharucha BA
core  

Variable phenotypic expression including late presentation of hypertrophic cardiomyopathy in LEOPARD syndrome with P.Q510E mutation in PTPN11 gene

, 2015
LEOPARD syndrome is a complex dysmorphogenetic disorder of variable penetrance and expressivity. Mutations in the PTPN11 gene are frequently reported in patients with Noonan syndrome (NS) and LEOPARD syndrome (LS).
Chandra, Pampa, Sayeed, Md. Zahidus, Salam, Md. Abdus, Bhuiyan, Zahurul A, Bhaduri, Joydeep, Siddiqui, Muhammad Afsar   +5 more
core   +1 more source

Leopard syndrome without lentigenes: A rare presentation and literature review

Journal of Integrative Medicine and Research
Leopard syndrome (LS) has presentations of lentigines, conduction abnormalities in the heart, hypertelorism of the eyes, stenosis of the pulmonary artery, cryptorchidism, mental retardation, and sensorineural deafness.
Nikhila Gannavarapu, Preetinanda Parida, P. N. V. Sneharika, Sebaranjan Biswal, Ambika Prasad Mohanty, Nirmal Kumar Mohakud   +5 more
doaj   +1 more source

LEOPARD syndrome with partly normal skin and sex chromosome mosaicism

, 2007
We report on a family with LEOPARD syndrome which was molecularly proven (p.Thr468Met in PTPN11) in a father and his adult son. The father had multiple lentigines dispersed equally over his body; the son was similarly affected except for the left part of
Hoovers, Jan, Hennekam, Raoul C. M., Hennekam, Raoul C.M., Writzl, Karin, Sistermans, Erik A.   +4 more
core   +1 more source

LEPOARD syndrome: A report of a case with a novel PTPN11 mutation

JAAD Case Reports, 2021
Nader Rahal, MD, Amir Sadi, MD, Eran Cohen-Barak, MD, Michael Ziv, MD, Judit Krausz, MD, Roni P. Dodiuk-Gad, MD   +5 more
doaj   +1 more source

Molecular Genetics of LEOPARD Syndrome

, 2013
LEOPARD syndrome (LS) is an acronym for the cardinal features lentigines, electrocardiogram conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensor ineural deafness.
Fayna Rodríguez‐González, Efrén Martínez‐Quintana, Rodríguez González, Fayna, Martínez Quintana, Efrén   +3 more
core   +1 more source