Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors (Q36884734)

2 July 2019

review article

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29 July 2022

Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors (English)

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2 July 2019

main subject

neurofibromatosis type I

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29 July 2022

Heather B Radtke

1

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2 July 2019

Courtney D Sebold

2

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2 July 2019

Caroline Allison

3

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2 July 2019

Joy Larsen Haidle

4

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2 July 2019

Gretchen Schneider

5

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2 July 2019

publication date

17 July 2007

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2 July 2019

Journal of Genetic Counseling

1 August 2007

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29 July 2022

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2 July 2019

29 July 2022

16

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2 July 2019

issue

4

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2 July 2019

page(s)

387-407

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2 July 2019

Precocious puberty in children with neurofibromatosis type 1.

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Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature

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12 December 2020

Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study.

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Cellular differentiation and expression of matrix genes in type 1 neurofibromatosis

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12 December 2020

Summary of patient data from a multidisciplinary neurofibromatosis clinic

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Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?

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Congenital pseudarthrosis of the clavicle

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Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

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Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Göteborg, Sweden

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Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

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Neurofibromatosis: an overview and new directions in clinical investigations.

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cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene

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12 December 2020

Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia. World statistical analysis.

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12 December 2020

Independent NF1 mutations in two large families with spinal neurofibromatosis

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12 December 2020

Epidemiology of neurofibromatosis type 1.

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12 December 2020

Pseudarthrosis of the radius associated with neurofibromatosis. A case report

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12 December 2020

Prenatal diagnosis of neurofibromatosis type 1: sonographic and MRI findings

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12 December 2020

Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.

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12 December 2020

The nature and frequency of cognitive deficits in children with neurofibromatosis type 1.

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12 December 2020

Orthopaedic manifestations of neurofibromatosis in children: an update.

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12 December 2020

Neurofibromatosis and pregnancy. An update.

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12 December 2020

Decreased bone mineral density and content in neurofibromatosis type 1: lowest local values are located in the load-carrying parts of the body

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12 December 2020

Neurofibromatosis in children: the role of the orthopaedist.

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12 December 2020

Noonan phenotype associated with neurofibromatosis

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12 December 2020

Social skills of children with neurofibromatosis type 1.

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The Proteus syndrome: the Elephant Man diagnosed

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Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic

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12 December 2020

Neurofibromatosis in pregnancy

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Neurofibromatosis presenting as a severe systemic vasculopathy

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Social and emotional problems in children with neurofibromatosis type 1: evidence and proposed interventions

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Pregnancy and neurofibromatosis (von Recklinghausen's disease)

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12 December 2020

Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations

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12 December 2020

How children with neurofibromatosis type 1 differ from "typical" learning disabled clinic attenders: nonverbal learning disabilities revisited.

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12 December 2020

MRI and nonverbal cognitive deficits in children with neurofibromatosis 1.

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12 December 2020

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.

1 reference

12 December 2020

Café au lait spots: the pediatrician's perspective

1 reference

12 December 2020

Ophthalmic manifestations of neurofibromatosis

1 reference

12 December 2020

Malignancy in neurofibromatosis type 1.

1 reference

12 December 2020

Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1.

1 reference

12 December 2020

Familial segmental neurofibromatosis

1 reference

12 December 2020

Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis-1.

1 reference

12 December 2020

A 4-year-old boy with neurofibromatosis and severe renovascular hypertension due to renal arterial dysplasia

1 reference

12 December 2020

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

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12 December 2020

Neurobehavioral profiles of children with neurofibromatosis 1 referred for learning disabilities are sex-specific.

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12 December 2020

Case records of the Massachusetts General Hospital. Case 13-2005. A 48-year-old man with weakness of the limbs and multiple tumors of spinal nerves

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12 December 2020

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12 December 2020

Cognitive impairment in neurofibromatosis type 1.

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Watson syndrome: is it a subtype of type 1 neurofibromatosis?

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12 December 2020

Intellectual impairment in neurofibromatosis 1.

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12 December 2020

Lisch nodules in neurofibromatosis type 1.

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Iris hamartomata as diagnostic criterion in neurofibromatosis

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12 December 2020

Prevalence of scoliosis in neurofibromatosis

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12 December 2020

Prenatal ultrasound abnormalities in a patient with generalized neurofibromatosis type 1

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12 December 2020

Neurofibromatosis type 1 growth charts.

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12 December 2020

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

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12 December 2020

Gliomas in neurofibromatosis: a series of 89 cases with evidence for enhanced malignancy in associated cerebellar astrocytomas.

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12 December 2020

Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children.

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12 December 2020

Abdominal aortic coarctation, renovascular, hypertension, and neurofibromatosis

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12 December 2020

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A case of neurofibromatosis and breast cancer: loss of heterozygosity of NF1 in breast cancer

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Learning problems in neurofibromatosis patients.

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12 December 2020

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

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Juvenile xanthogranuloma associated with neurofibromatosis 1: 14 patients without evidence of hematologic malignancies

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12 December 2020

Pulmonary stenosis, cafe-au-lait spots, and dull intelligence

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12 December 2020

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Mortality in neurofibromatosis 1: an analysis using U.S. death certificates.

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Evidence of central nervous system involvement in Watson syndrome

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12 December 2020

Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.

1 reference

12 December 2020

Congenital oral tumor associated with neurofibromatosis detected by prenatal ultrasound

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12 December 2020

The oligodendrocyte-myelin glycoprotein belongs to a distinct family of proteins and contains the HNK-1 carbohydrate

1 reference

12 December 2020

Neurofibromatosis type 1 and sporadic optic gliomas.

1 reference

12 December 2020

von Recklinghausen's disease and pheochromocytomas

1 reference

12 December 2020

Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force

1 reference

12 December 2020

From the archives of the AFIP: abdominal neoplasms in patients with neurofibromatosis type 1: radiologic-pathologic correlation

1 reference

12 December 2020

The incidence and significance of birthmarks in a cohort of 4,641 newborns

1 reference

12 December 2020

Neurofibromatosis and psychological processes.

1 reference

12 December 2020

Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts

1 reference

12 December 2020

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

1 reference

12 December 2020

Cognitive function and academic performance in children with neurofibromatosis type 1.

1 reference

12 December 2020

Behavioral phenotype of neurofibromatosis, type 1.

1 reference

12 December 2020

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

1 reference

12 December 2020

Neurofibromatosis and pregnancy: report of a case complicated by intrauterine growth retardation and oligohydramnios

1 reference

12 December 2020

Growth charts for young children with neurofibromatosis 1 (NF1)

1 reference

12 December 2020

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1 reference

12 December 2020

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1 reference

12 December 2020

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12 December 2020

Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?

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12 December 2020

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12 December 2020

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1 reference

12 December 2020

Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion.

1 reference

12 December 2020

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

1 reference

12 December 2020

Somatic mosaicism in a patient with neurofibromatosis type 1.

1 reference

12 December 2020

The fibula in congenital pseudoarthrosis of the tibia: the EPOS multicenter study. European Paediatric Orthopaedic Society (EPOS)

1 reference

12 December 2020

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

1 reference

12 December 2020

Neurofibromatosis and childhood leukaemia/lymphoma: a population-based UKCCSG study

1 reference

12 December 2020

Neurofibromatosis and severe hypertension in pregnancy

1 reference

12 December 2020

Recommendations for standardized human pedigree nomenclature.

1 reference

12 December 2020

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

1 reference

12 December 2020

Diagnostic outcome in children with multiple café au lait spots

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12 December 2020

Brain tumors in children with neurofibromatosis: additional neuropsychological morbidity?

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12 December 2020

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12 December 2020

Ophthalmological manifestations in segmental neurofibromatosis type 1

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12 December 2020

Neurofibromatosis in childhood: neuropsychological aspects

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12 December 2020

Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland

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12 December 2020

10.1007/S10897-007-9101-8

Identifiers

DOI

1 reference

2 July 2019

PMCID

6338721

1 reference

2 July 2019

PubMed ID

17636453

1 reference

2 July 2019