[HTML][HTML] Leopard syndrome

A Sarkozy, MC Digilio, B Dallapiccola - Orphanet journal of rare diseases, 2008 - Springer
Abstract LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies
condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an …

Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

H Jungbluth, S Treves, F Zorzato, A Sarkozy… - Nature Reviews …, 2018 - nature.com
The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

B Pandit, A Sarkozy, LA Pennacchio, C Carta, K Oishi… - Nature …, 2007 - nature.com
Noonan and LEOPARD syndromes are developmental disorders with overlapping features,
including cardiac abnormalities, short stature and facial dysmorphia. Increased RAS …

[HTML][HTML] LAMA2-related dystrophies: clinical phenotypes, disease biomarkers, and clinical trial readiness

A Sarkozy, AR Foley, AA Zambon… - Frontiers in Molecular …, 2020 - frontiersin.org
Mutations in the LAMA2 gene affect the production of the α2 subunit of laminin-211 (=
merosin) and result in either partial or complete laminin-211 deficiency. Complete merosin …

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

M Tartaglia, LA Pennacchio, C Zhao, KK Yadav… - Nature …, 2007 - nature.com
Noonan syndrome is a developmental disorder characterized by short stature, facial
dysmorphia, congenital heart defects and skeletal anomalies. Increased RAS-mitogen …

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

BB Cummings, JL Marshall, T Tukiainen… - Science translational …, 2017 - science.org
Exome and whole-genome sequencing are becoming increasingly routine approaches in
Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic …

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

V Cordeddu, E Di Schiavi, LA Pennacchio, A Ma'ayan… - Nature …, 2009 - nature.com
N-myristoylation is a common form of co-translational protein fatty acylation resulting from
the attachment of myristate to a required N-terminal glycine residue,. We show that …

[PDF][PDF] Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

MC Digilio, E Conti, A Sarkozy, R Mingarelli… - The American Journal of …, 2002 - cell.com
Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction
abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of …

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

A Sarkozy, C Carta, S Moretti, G Zampino… - Human …, 2009 - Wiley Online Library
Noonan, LEOPARD, and cardiofaciocutaneous syndromes (NS, LS, and CFCS) are
developmental disorders with overlapping features including distinctive facial dysmorphia …

229th ENMC international workshop: Limb girdle muscular dystrophies–Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

V Straub, A Murphy, B Udd, A Corrado, S Aymé… - Neuromuscular …, 2018 - Elsevier
Historically, the classification and nomenclature of diseases has not been systematic and
diseases were either classified by cause, presenting symptoms and signs, pathological …