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Pathologic and Molecular Analysis in a Family with Rare Mixed Supravalvar Aortic and Pulmonic Stenosis.
- Published in:
- Pediatric & Developmental Pathology, 2006, v. 9, n. 4, p. 297, doi. 10.2350/06-01-0014.1
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- Publication type:
- Article
Peripheral Nerve Sheath Tumors from Patients with Neurofibromatosis Type 1 Do Not Have the Chromosomal Translocation t(X;18).
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- Pediatric & Developmental Pathology, 2002, v. 5, n. 2, p. 165, doi. 10.1007/s10024001-0126-y
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- Publication type:
- Article
Author Correction: Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-99752-5
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- Publication type:
- Article
Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 7, p. 1696, doi. 10.1210/clinem/dgad015
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- Publication type:
- Article
The NF1 Translocation Breakpoint Region.
- Published in:
- Annals of the New York Academy of Sciences, 1991, v. 615, n. 1, p. 319, doi. 10.1111/j.1749-6632.1991.tb37774.x
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- Publication type:
- Article
Neurocutaneous disorders.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 3, p. 278, doi. 10.1002/ajmg.c.31650
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- Publication type:
- Article
Ophthalmologic Features of Vici Syndrome.
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- Journal of Pediatric Ophthalmology & Strabismus, 2014, v. 51, n. 4, p. 214, doi. 10.3928/01913913-20140423-02
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- Publication type:
- Article
Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2941, doi. 10.1002/ajmg.a.62910
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- Publication type:
- Article
Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2425, doi. 10.1002/ajmg.a.61378
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- Publication type:
- Article
Three novel <italic>GJB2</italic> (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 945, doi. 10.1002/ajmg.a.38648
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- Publication type:
- Article
Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2628, doi. 10.1002/ajmg.a.38369
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- Publication type:
- Article
Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 647, doi. 10.1002/ajmg.a.38058
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- Publication type:
- Article
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2085, doi. 10.1002/ajmg.a.37128
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- Publication type:
- Article
Stress and coping in parents of children with Prader-Willi syndrome: Assessment of the impact of a structured plan of care.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 974, doi. 10.1002/ajmg.a.36971
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- Publication type:
- Article
Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 1, doi. 10.1002/ajmg.a.36793
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- Publication type:
- Article
Screening children with neurofibromatosis type 1 for autism spectrum disorder.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1706, doi. 10.1002/ajmg.a.36549
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- Publication type:
- Article
Phenotype of a patient with contiguous deletion of TBX5 and TBX3: Expanding the disease spectrum.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1304, doi. 10.1002/ajmg.a.36447
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- Publication type:
- Article
Fractures in Children With Neurofibromatosis Type 1 From Two NF Clinics.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 921, doi. 10.1002/ajmg.a.35541
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- Publication type:
- Article
A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 467, doi. 10.1002/ajmg.a.35718
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- Publication type:
- Article
Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1.
- Published in:
- Nature Genetics, 2001, v. 27, n. 4, p. 399, doi. 10.1038/86898
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- Publication type:
- Article
NF1 Somatic Mutation in Dystrophic Scoliosis.
- Published in:
- Journal of Molecular Neuroscience, 2019, v. 68, n. 1, p. 11, doi. 10.1007/s12031-019-01277-0
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- Publication type:
- Article
Preaxial ray reduction defects as part of valproic acid embryofetopathy.
- Published in:
- Prenatal Diagnosis, 1993, v. 13, n. 10, p. 909, doi. 10.1002/pd.1970131005
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- Publication type:
- Article
Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial.
- Published in:
- Diabetes, Obesity & Metabolism, 2017, v. 19, n. 12, p. 1751, doi. 10.1111/dom.13021
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- Publication type:
- Article
Peripheral muscle weakness in RASopathies.
- Published in:
- Muscle & Nerve, 2012, v. 46, n. 3, p. 394, doi. 10.1002/mus.23324
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- Publication type:
- Article
A likely HOXC4 predisposition variant for Chiari malformations.
- Published in:
- Journal of Neurosurgery, 2023, v. 139, n. 1, p. 266, doi. 10.3171/2022.10.jns22956
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- Publication type:
- Article
Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study.
- Published in:
- 2017
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- Publication type:
- journal article
A chromosome jump crosses a translocation breakpoint in the von recklinghausen neurofibromatosis region.
- Published in:
- Genes, Chromosomes & Cancer, 1990, v. 2, n. 4, p. 271, doi. 10.1002/gcc.2870020404
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- Publication type:
- Article
Lost in Translation: Ambiguity in Nerve Sheath Tumor Nomenclature and Its Resultant Treatment Effect.
- Published in:
- Cancers, 2013, v. 5, n. 2, p. 519, doi. 10.3390/cancers5020519
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- Publication type:
- Article
Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network.
- Published in:
- 2016
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- Publication type:
- Report
Pediatric 25-hydroxyvitamin D concentrations in neurofibromatosis type 1.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 3/4, p. 169, doi. 10.1515/JPEM.2011.092
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- Publication type:
- Article
SARC006: Phase II Trial of Chemotherapy in Sporadic and Neurofibromatosis Type 1 Associated Chemotherapy-Naive Malignant Peripheral Nerve Sheath Tumors.
- Published in:
- Sarcoma, 2017, p. 1, doi. 10.1155/2017/8685638
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- Publication type:
- Article
Malignant Peripheral Nerve Sheath Tumors State of the Science: Leveraging Clinical and Biological Insights into Effective Therapies.
- Published in:
- Sarcoma, 2017, p. 1, doi. 10.1155/2017/7429697
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- Publication type:
- Article
Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1.
- Published in:
- 2021
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- Publication type:
- journal article
A phase II study of continuous oral mTOR inhibitor everolimus for recurrent, radiographic-progressive neurofibromatosis type 1–associated pediatric low-grade glioma: a Neurofibromatosis Clinical Trials Consortium study.
- Published in:
- Neuro-Oncology, 2020, v. 22, n. 10, p. 1527, doi. 10.1093/neuonc/noaa071
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- Publication type:
- Article
Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a Neurofibromatosis Clinical Trials Consortium phase II study.
- Published in:
- Neuro-Oncology, 2015, v. 17, n. 4, p. 596, doi. 10.1093/neuonc/nou235
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- Publication type:
- Article
Pigmentary findings in neurofibromatosis type 1-like syndrome (Legius syndrome): potential diagnostic dilemmas.
- Published in:
- 2009
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- Publication type:
- commentary
Pigmentary Findings in Neurofibromatosis Type 1--like Syndrome (Legius Syndrome).
- Published in:
- 2009
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- Publication type:
- Editorial
Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 12, p. 2555, doi. 10.1002/acn3.50952
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- Publication type:
- Article
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 4, p. 281, doi. 10.1111/cge.13583
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- Publication type:
- Article
Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 23, p. 4818, doi. 10.1093/hmg/ddt333
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- Publication type:
- Article
Molecular characterization of metachronous atypical teratoid rhabdoid tumors occurring in a young man 15 years apart.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 1, p. 1, doi. 10.1002/pbc.29836
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- Publication type:
- Article
Visual outcomes following everolimus targeted therapy for neurofibromatosis type 1‐associated optic pathway gliomas in children.
- Published in:
- Pediatric Blood & Cancer, 2021, v. 68, n. 4, p. 1, doi. 10.1002/pbc.28833
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- Publication type:
- Article
Neurofibromatosis 2011: a report of the Children's Tumor Foundation Annual Meeting.
- Published in:
- 2012
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- Publication type:
- Report
Multiple increased osteoclast functions in individuals with neurofibromatosis type 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1050, doi. 10.1002/ajmg.a.33965
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- Publication type:
- Article
Variable expression of neurofibromatosis 1 in monozygotic twins.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 478, doi. 10.1002/ajmg.a.33851
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- Publication type:
- Article
SPRED 1 Mutations in a Neurofibromatosis Clinic.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 10, p. 1203, doi. 10.1177/0883073809359540
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- Publication type:
- Article
Genetics of Neurofibromatosis 1 and the NF1 Gene.
- Published in:
- Journal of Child Neurology, 2002, v. 17, n. 8, p. 562, doi. 10.1177/088307380201700804
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- Publication type:
- Article
Atelencephalic Aprosencephaly.
- Published in:
- Journal of Child Neurology, 1994, v. 9, n. 4, p. 412, doi. 10.1177/088307389400900416
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- Publication type:
- Article
RNA and protein evidence for haplo-insufficiency in Diamond–Blackfan anaemia patients withRPS19mutations.
- Published in:
- British Journal of Haematology, 2004, v. 127, n. 1, p. 105, doi. 10.1111/j.1365-2141.2004.05152.x
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- Publication type:
- Article