Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Journal of Medical Genetics

• Publication date

  2004-04-30

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jmg.2003.013466PMID 15121796PMCID PMC1735759
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Pigmentary Anomalies in the Multiple Lentigines Syndrome: Is it Distinct from LEOPARD Syndrome?

  2010cited by this paper
• A Novel PTPN11 mutation in LEOPARD syndrome

  2003cited by this paper
• Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

  2003cited by this paper
• Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

  2003cited by this paper
• A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7

  2003cited by this paper
• PTPN11 Mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13

  2002cited by this paper
• PTPN11 mutations in LEOPARD syndrome

  2002cited by this paper
• PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

  2002cited by this paper
• PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

  2002cited by this paper
• Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

  2002cited by this paper
• Coeliac disease in Williams syndrome

  2001cited by this paper
• Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

  2001cited by this paper
• Prevalence of coeliac disease in Turner syndrome

  1999cited by this paper
• Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

  1997cited by this paper
• Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome

  1996cited by this paper
• Mapping a gene for Noonan syndrome to the long arm of chromosome 12

  1994cited by this paper
• Down's Syndrome and Celiac Disease: The Prevalence of High IgA‐Antigliadin Antibodies and HLA‐DR and DQ Antigens in Trisomy 21

  1993cited by this paper
• Cardiologic Abnormalities in Noonan Syndrome: Phenotypic Diagnosis and Echocardiographic Assessment of 118 Patients

  1993cited by this paper
• Coordination in Child Protection: A Review of the Literature

  1993cited by this paper
• Noonan syndrome.

  1987cited by this paper
• Unifying link between Noonan's and Leopard syndromes?

  1983cited by this paper
• Multiple lentigines syndrome. Case report and review of the literature.

  1976cited by this paper
• Cardio‐cutaneous syndrome (the “LEOPARD” syndrome). Review of the literature and a new family

  1976cited by this paper
• The multiple lentigines syndrome.

  1973cited by this paper
• The heart in lentiginosis.

  1972cited by this paper
• The leopard (multiple lentigines) syndrome revisited

  1971cited by this paper
• Progressive Cardiomyopathic Lentiginosis: First Report of Autopsy Findings in a Recently Recognized Inheritable Disorder (Autosomal Dominant)

  1970cited by this paper
• Multiple lentigenes syndrome.

  1969cited by this paper
• Multiple Lentigenes Syndrome: Complex Comprising Multiple Lentigenes, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonary Stenosis, Abnormalities of Genitalia, Retardation of Growth, Sensorineural Deafness, and Autosomal Dominant Hereditary Pattern

  1969cited by this paper

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  2026cites this paper
• Phosphatase SHP2 pathogenic mutations enhance activity by altering conformational sampling

  2025cites this paper
• Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders

  2025cites this paper
• Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review

  2025cites this paper
• Multiplexed single-cell transcriptomics reveals diverse phenotypic outcomes for pathogenic SHP2 variants

  2025cites this paper
• [Hypertrophy of the lumbosacral nerve roots in Noonan syndrome with multiple lentigines: a case report].

  2025cites this paper
• Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review

  2024cites this paper
• A patient with a PTPN11 gene variant complicated with Chiari I malformation and syringomyelia and a review of literatures

  2024cites this paper
• Cardiodermatology: the heart of the connection between the skin and cardiovascular disease.

  2024cites this paper
• Promising natural products targeting protein tyrosine phosphatase SHP2 for cancer therapy

  2024cites this paper
• Treatment of Facial Lentigines in an Adult Female Patient Suspected with Leopard Overlap Noonan Syndrome

  2023influential citation
• Kinase Inhibitors in Genetic Diseases

  2023cites this paper
• SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities

  2023cites this paper
• LEOPARD syndrome with hypertrophic cardiomyopathy.

  2022cites this paper
• New insights on Noonan syndrome’s clinical phenotype: a single center retrospective study

  2022influential citation
• Phacomatosis pigmentovascularis spilorosea and mutation in the PTPN11 gene: new case with significant neurologic impairment

  2022cites this paper
• Peutz–Jeghers syndrome: a multidisciplinary approach to diagnosis based on a clinical case

  2022cites this paper
• A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects

  2022cites this paper
• Updated Approach to Patients with Multiple Café au Lait Macules.

  2021cites this paper
• The role of the protein tyrosine phosphatase SHP2 in ossification

  2021cites this paper
• Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1

  2021cites this paper
• Genodermatoses with Hearing impairment.

  2021cites this paper
• Peutz-Jeghers syndrome: an unusual autopsy finding in pregnancy

  2021cites this paper
• LEPOARD syndrome: A report of a case with a novel PTPN11 mutation

  2021cites this paper
• Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage

  2021influential citation
• Cochlear implantation in LEOPARD syndrome: Our experience with three patients

  2021cites this paper
• RASopathies.

  2020cites this paper
• Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms

  2020cites this paper
• Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants

  2020cites this paper
• Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy.

  2020cites this paper
• Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

  2019cites this paper
• Management of Peutz-Jeghers Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group.

  2019cites this paper
• RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis

  2019cites this paper
• Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases

  2019cites this paper
• Etude des anomalies du métabolisme énergétique associées au syndrome de Noonan

  2019cites this paper
• LEOPARD syndrome with late onset lentigines: A rarity

  2018cites this paper
• Generalised lentiginosis and café noir spots leading to a diagnosis of LEOPARD syndrome

  2018cites this paper
• The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.

  2018cites this paper
• Neurocutaneous Disorders

  2018cites this paper
• Cardiovascular disease in Noonan syndrome

  2018cites this paper
• Mechanism of activating mutations and allosteric drug inhibition of the phosphatase SHP2

  2018cites this paper
• Noonan syndrome with multiple lentigines and associated craniosynostosis

  2018cites this paper
• Cutaneous Manifestations of Rasopathies

  2017cites this paper
• Clinical Syndromes Associated with Cardiovascular Diseases: A Review

  2017cites this paper
• Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

  2017cites this paper
• Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

  2016cites this paper
• Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.

  2016cites this paper
• Genetic, haplotype and functional investigations on rare monogenic diseases

  2016cites this paper
• Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines.

  2016cites this paper
• The experience of bilateral cochlear implantation in a child with LEOPARD syndrome.

  2016cites this paper
• Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder

  2016cites this paper
• Variable Phenotypic Expression Including Late Presentation of Hypertrophic Cardiomyopathy in LEOPARD Syndrome with P.Q510E Mutation in PTPN11 Gene

  2015cites this paper
• Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation.

  2015cites this paper
• Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines.

  2015influential citation
• SHP2 sails from physiology to pathology.

  2015cites this paper
• Noonan Syndrome with Multiple Lentigines: Insights into Hypertrophy and Hypercontractility

  2015cites this paper
• Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation

  2015cites this paper
• LEOPARD Syndrome with Patent Ductus Arteriosus and Hypertrophic Cardiomyopathy.

  2015cites this paper
• Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

  2014cites this paper
• A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype

  2014cites this paper
• Leopard syndrome: a report of five cases from one family in two generations

  2014cites this paper
• Regulation of bone and skeletal development by the SHP-2 protein tyrosine phosphatase.

  2014cites this paper
• LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

  2014cites this paper
• Hypertrophic cardiomyopathy in a newborn with a rare genetic syndrome – diagnostic and therapeutic difficulties

  2014influential citation
• Prenatal screening strategies, long-term outcome of children with marked changes in maternal screening tests and the most common syndromic heart anomalies in Estonia

  2014influential citation
• Síndrome LEOPARD: una variante del síndrome de Noonan con fuerte asociación a miocardiopatía hipertrófica

  2013cites this paper
• LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.

  2013cites this paper
• Characterization of hereditary cancer syndromes

  2013cites this paper
• Molecular Genetics of LEOPARD Syndrome

  2013cites this paper
• Do you know this syndrome?

  2013cites this paper
• The regulation of testicular descent and the effects of cryptorchidism.

  2013cites this paper
• Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice

  2013cites this paper
• Syndrome LEOPARD et carcinome épidermoïde labial : présentation d’un cas

  2012cites this paper
• Atrioventricular canal defect in patients with RASopathies

  2012cites this paper
• Tumeurs cutanées de l'enfant (hors tumeurs virales)

  2012cites this paper
• LEOPARD Syndrome: Clinical Features and Gene Mutations

  2012cites this paper
• LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene

  2012cites this paper
• Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome

  2012cites this paper
• A familial case of Cantu craniofaciofronto digital syndrome

  2012influential citation
• [Progressive cardiomyopathy by the LEOPARD syndrome].

  2012cites this paper
• A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1

  2012cites this paper
• Microstomia: A Rare but Serious Oral Manifestation of Inherited Disorders

  2011cites this paper
• Voce conhece esta sindrome

  2011cites this paper
• PTPN11 gene mutation associated with abnormal gonadal determination

  2011cites this paper
• Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome

  2011influential citation
• LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD.

  2011cites this paper
• PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?

  2011cites this paper
• A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder.

  2011cites this paper
• Síndrome de leopard asociado a estenosis pulmonar

  2011cites this paper
• A Case Report on Aural Rehabilitation after Cochlear Implantation in a Child with Goldenhar Syndrome

  2011cites this paper
• [Rasopathies: developmental disorders that predispose to cancer and skin manifestations].

  2011cites this paper
• Disorders of Pigmentation

  2011cites this paper
• Determinantes genéticos na síndrome de Noonan e nas síndromes Noonan-like: investigação clínica e molecular

  2011cites this paper
• [Neuro-cardio-facial-cutaneous syndrome].

  2011cites this paper
• [Rasopathies: developmental disorders that predispose to cancer and skin manifestations].

  2011cites this paper
• Skin signs of systemic diseases.

  2011cites this paper
• Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

  2010cites this paper
• Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome)

  2010cites this paper
• Acute motor and sensory axonal neuropathy in LEOPARD syndrome.

  2010cites this paper
• Molecular mechanisms regulating embryonic cerebral cortex development.

  2010cites this paper