L. Nicholson

发表

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

E. Zackai, I. Krantz, N. Spinner, 2004, American journal of medical genetics. Part A.

Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda

K. Gripp, L. Nicholson, C. I. Scott Jr., 1997, Skeletal Radiology.

Somatic mosaicism for an HRAS mutation causes Costello syndrome

J. Hoffman, K. Gripp, D. Stabley, 2006, American journal of medical genetics. Part A.

Wilms tumor in an 11‐year‐old with hemihyperplasia

E. Zackai, R. Weksberg, K. Gripp, 2005, American Journal of Medical Genetics. Part A.

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio‐facio‐cutaneous syndrome from Costello syndrome

K. Jones, K. Gripp, A. Lin, 2007, American journal of medical genetics. Part A.

A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father.

A. Zinn, J. Ross, C. Scott, 2001, American journal of medical genetics.

HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

E. Zackai, P. Lapunzina, K. Gripp, 2006, American journal of medical genetics. Part A.

Further delineation of cardiac abnormalities in Costello syndrome.

E. Zackai, R. Weksberg, B. Marino, 2002, American journal of medical genetics.

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

I. Glass, K. Gripp, W. Dobyns, 2004, Neuropediatrics.

Paternal bias in parental origin of HRAS mutations in Costello syndrome

K. Gripp, D. Stabley, K. Sol‐Church, 2006, Human mutation.

Extending the spectrum of distal arthrogryposis.

K. Gripp, W. Mackenzie, C. Scott, 1996, American journal of medical genetics.

Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.

E. Zackai, K. Gripp, Marilyn C. Jones, 2002, American journal of medical genetics.

Candidate loci for Zimmermann–Laband syndrome at 3p14.3

M. MacDonald, J. Gusella, C. Morton, 2007, American journal of medical genetics. Part A.

Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children

S. Scherer, L. Pérez-Jurado, K. Gripp, 2005, Human Genetics.

Lateral meningocele syndrome: three new patients and review of the literature.

E. Zackai, A. Duhaime, S. Zderic, 1997, American journal of medical genetics.

Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome

K. Gripp, M. Axelrad, L. Nicholson, 2004, American journal of medical genetics. Part A.

Elevated catecholamine metabolites in patients with Costello syndrome

K. Gripp, D. Viskochil, H. Kawame, 2004, American journal of medical genetics. Part A.

Male‐to‐male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

K. Gripp, A. Lin, L. Demmer, 2009, American journal of medical genetics. Part A.

Phenotypic variability in the Baller-Gerold syndrome: Report of a mildly affected patient and review of the literature

C. Scott, L. Nicholson, F. J. R. Fuentes, 1994, European Journal of Pediatrics.

Second case of bladder carcinoma in a patient with Costello syndrome.

K. Gripp, C. Scott, L. Nicholson, 2000, American journal of medical genetics.

Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype?

K. Gripp, A. Innes, J. Parboosingh, 2008, American journal of medical genetics. Part A.

Risk Factors in Klippel‐Feil Syndrome

G. Macewen, P. Pizzutillo, L. Nicholson, 1994, Spine.

Hypercalciuria and urolithiasis in a case of Costello syndrome

L. Nicholson, F. Assadi, C. McKay, 1999, Pediatric Nephrology.

Longitudinal assessment of cognitive characteristics in Costello syndrome

K. Gripp, D. Stabley, M. Axelrad, 2007, American journal of medical genetics. Part A.

Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome.

C. Scott, L. Nicholson, R. Wallerstein, 1997, American journal of medical genetics.

Reply to Aymé and Philip

K. Gripp, C. Scott, L. Nicholson, 1997 .

Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene

M. Baiget, E. Tizzano, J. Colomer, 1994, European Journal of Pediatrics.

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

C. Walsh, Ming-Hui Chen, S. Robertson, 2005, Neurology.

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity

A. Green, S. Robertson, G. Mortier, 2006, American journal of medical genetics. Part A.

Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.

K. Gripp, C. Scott, L. Nicholson, 1996, American journal of medical genetics.