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Genotype-phenotype correlations in Rubinstein-Taybi syndrome

American journal of medical genetics. Part A, 2008-10, Vol.146A (19), p.2512-2519

2008

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Neurofibromatosis in children: the role of the orthopaedist

Journal of the American Academy of Orthopaedic Surgeons, 1999-07, Vol.7 (4), p.217

1999

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Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas

Familial cancer, 2012-12, Vol.11 (4), p.653-656

2012

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

The Journal of pediatrics, 1999-06, Vol.134 (6), p.767-772

1999

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Skeletal demineralization and fractures caused by fetal magnesium toxicity

Journal of Perinatology, 2006-06, Vol.26 (6), p.371-374

2006

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Thoracic tumors in children with neurofibromatosis-1

American journal of medical genetics, 1997-09, Vol.74 (5), p.533-537

1997

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Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome

The Journal of pediatrics, 2000-08, Vol.137 (2), p.247-249

2000

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Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1

American journal of medical genetics, 1999-06, Vol.84 (5), p.413-419

1999

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Gene symbol: COL1A2. Disease: osteogenesis imperfecta type II

Human genetics, 2006-07, Vol.119 (6), p.677-677

2006

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Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.602-607

2019

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Partial trisomy 1q with growth hormone deficiency and normal intelligence

American journal of medical genetics, 1998-05, Vol.77 (4), p.257-260

1998

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Familial partial duplication (1)(p21p31)

American journal of medical genetics, 1995-11, Vol.59 (3), p.291-294

1995

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Parental Distress, Family Functioning, and Social Support in Families with and without a Child with Neurofibromatosis 1

Journal of pediatric psychology, 2008-05, Vol.33 (4), p.422-434

2008

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Human blood genomics: distinct profiles for gender, age and neurofibromatosis type 1

Brain research. Molecular brain research., 2004-12, Vol.132 (2), p.155-167

2004

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The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1

Genetics in medicine, 2007-07, Vol.9 (7), p.409-412

2007

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A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene

American journal of human genetics, 1989, Vol.44 (1), p.33-37

1989

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Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and down's syndrome

Annals of neurology, 2004-12, Vol.56 (6), p.808-814

2004

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Epidemiology of hemimegalencephaly: A case series and review

American journal of medical genetics. Part A, 2005-12, Vol.139A (3), p.204-211

2005

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A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother

American journal of medical genetics. Part A, 2005-11, Vol.138A (4), p.361-364

2005

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Ullrich-Turner syndrome and neurofibromatosis-1

American journal of medical genetics, 1996-12, Vol.66 (4), p.423-425

1996

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Valproate embryopathy: Clinical and cognitive profile in 5 siblings

American journal of medical genetics. Part A, 2005-03, Vol.133A (2), p.202-206

2005

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Long‐term survival in a patient with del(18)(q12.2q21.1)

American journal of medical genetics, 2003-05, Vol.119A (1), p.66-70

2003

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Summary of patient data from a multidisciplinary neurofibromatosis clinic

Neurofibromatosis, 1989, Vol.2 (2), p.129

1989

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Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1

The Journal of pediatrics, 2012-03, Vol.160 (3), p.461-467

2012

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Descriptive Analysis of Tibial Pseudarthrosis in Patients With Neurofibromatosis 1

American journal of medical genetics, 1999-06, Vol.84 (5), p.413-419

1999

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Genotype-phenotype correlations in Rubinstein-Taybi syndrome

Neurofibromatosis in children: the role of the orthopaedist

Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas

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

Skeletal demineralization and fractures caused by fetal magnesium toxicity

Thoracic tumors in children with neurofibromatosis-1

Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1

Gene symbol: COL1A2. Disease: osteogenesis imperfecta type II

Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1

Partial trisomy 1q with growth hormone deficiency and normal intelligence

Familial partial duplication (1)(p21p31)

Parental Distress, Family Functioning, and Social Support in Families with and without a Child with Neurofibromatosis 1

Human blood genomics: distinct profiles for gender, age and neurofibromatosis type 1

The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1

A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene

Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and down's syndrome

Epidemiology of hemimegalencephaly: A case series and review

A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother

Ullrich-Turner syndrome and neurofibromatosis-1

Valproate embryopathy: Clinical and cognitive profile in 5 siblings

Long‐term survival in a patient with del(18)(q12.2q21.1)

Summary of patient data from a multidisciplinary neurofibromatosis clinic

Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1

Descriptive Analysis of Tibial Pseudarthrosis in Patients With Neurofibromatosis 1

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