[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 …
condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an …
Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction
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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
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 …
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
Historically, the classification and nomenclature of diseases has not been systematic and
diseases were either classified by cause, presenting symptoms and signs, pathological …
diseases were either classified by cause, presenting symptoms and signs, pathological …