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Linda Nicholson

Research Profile

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Publications

TOP 3
Katia Sol-Church; Deborah L Stabley; Laurie A Demmer; Abigail Agbulos; Angela E Lin; Leslie Smoot; Linda Nicholson; Karen W Gripp
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
Karen W Gripp; A Micheil Innes; Marni E Axelrad; Tanya L Gillan; Jillian S Parboosingh; Christine Davies; Norma J Leonard; Monique Lapointe; Daniel Doyle; Sarah Catalano; Linda Nicholson; Deborah L Stabley; Katia Sol-Church
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
Karen W Gripp; Caitlyn Johnson; Charles I Scott; Linda Nicholson; Michael Bober; Merlin G Butler; Linda Shaw; Robert J Gorlin
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.

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All Publications

2009: Katia Sol-Church; Deborah L Stabley; Laurie A Demmer; Abigail Agbulos; Angela E Lin; Leslie Smoot; Linda Nicholson; Karen W Gripp
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
American journal of medical genetics. Part A 2009;149A(3):315-21.
2008: Karen W Gripp; A Micheil Innes; Marni E Axelrad; Tanya L Gillan; Jillian S Parboosingh; Christine Davies; Norma J Leonard; Monique Lapointe; Daniel Doyle; Sarah Catalano; Linda Nicholson; Deborah L Stabley; Katia Sol-Church
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
American journal of medical genetics. Part A 2008;146A(6):683-90.
2008: Karen W Gripp; Caitlyn Johnson; Charles I Scott; Linda Nicholson; Michael Bober; Merlin G Butler; Linda Shaw; Robert J Gorlin
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.
American journal of medical genetics. Part A 2008;146A(4):468-73.
2007: Marni E Axelrad; Linda Nicholson; Deborah L Stabley; Katia Sol-Church; Karen W Gripp
Longitudinal assessment of cognitive characteristics in Costello syndrome.
American journal of medical genetics. Part A 2007;143A(24):3185-93.
2007: Karen W Gripp; Angela E Lin; Linda Nicholson; William Allen; Andrea Cramer; Kenneth L Jones; Wendy Kutz; Dawn Peck; Michael A Rebolledo; Patricia G Wheeler; William Wilson; Mohamad Al-Rahawan; Deborah L Stabley; Katia Sol-Church
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
American journal of medical genetics. Part A 2007;143A(13):1472-80.
2006: Karen W Gripp; Deborah L Stabley; Linda Nicholson; Jodi D Hoffman; Katia Sol-Church
Somatic mosaicism for an HRAS mutation causes Costello syndrome.
American journal of medical genetics. Part A 2006;140(20):2163-9.
2006: Stephen P Robertson; Zandra A Jenkins; Timothy Morgan; Lesley C Adès; Salim Aftimos; Odile Boute; Torunn Fiskerstrand; Sixto Garcia-Miñaur; Arthur Grix; Andrew Green; Vazken M Der Kaloustian; Ray Lewkonia; Brenda McInnes; Mieke M van Haelst; Grazia Mancini; Grazia Macini; Tamás Illés; Geert R Mortier; Ruth Newbury-Ecob; Linda Nicholson; Charles I Scott; Karolina Ochman; Izabela Brozek; Deborah J Shears; andrea superti-furga; Mohnish Suri; Margo Whiteford; Andrew O M Wilkie; Deborah Krakow
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
American journal of medical genetics. Part A 2006;140(16):1726-36.
2006: Katia Sol-Church; Deborah L Stabley; Linda Nicholson; Iris L Gonzalez; Karen W Gripp
Paternal bias in parental origin of HRAS mutations in Costello syndrome.
Human mutation 2006;27(8):736-41.
2006: Karen W Gripp; Angela E Lin; Deborah L Stabley; Linda Nicholson; Charles I Scott; Daniel Doyle; Yoko Aoki; Yoichi Matsubara; Elaine H Zackai; Pablo Lapunzina; Antonio Gonzalez-Meneses; Jennifer Holbrook; Cynthia A Agresta; Iris L Gonzalez; Katia Sol-Church
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
American journal of medical genetics. Part A 2006;140(1):1-7.
2005: Amanda Carré; Christopher Frantz; Rosanna Weksberg; Linda Nicholson; Lynn Ciarlo; Elaine H Zackai; Karen W Gripp
Wilms tumor in an 11-year-old with hemihyperplasia.
American journal of medical genetics. Part A 2005;139A(2):165-6.
2005: Stephen W Scherer; Karen W Gripp; Jaume Lucena; Linda Nicholson; Jean-Paul Bonnefont; Luis A Pérez Jurado; Lucy Osborne
Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.
Human genetics 2005;117(4):383-8.
2004: Marni E Axelrad; Rochelle Glidden; Linda Nicholson; Karen W Gripp
Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome.
American journal of medical genetics. Part A 2004;128A(4):396-400.
2004: Douglas R Stewart; Alina Huang; Francesca Faravelli; Britt-Marie Anderlid; Livija Medne; Karen L Ciprero; Maninder Kaur; Elena Rossi; Romano Tenconi; Magnus Nordenskjöld; Karen W Gripp; Linda Nicholson; Wendy S Meschino; Esther Capua; Oliver W J Quarrell; Jonathon Flint; Mira Irons; Philip F Giampietro; David B Schowalter; Christina Zaleski; Michela Malacarne; Elaine H Zackai; Nancy B Spinner; Ian D Krantz
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
American journal of medical genetics. Part A 2004;128A(4):340-51.
2004: Karen W Gripp; Hiroshi Kawame; David H Viskochil; Linda Nicholson
Elevated catecholamine metabolites in patients with Costello syndrome.
American journal of medical genetics. Part A 2004;128A(1):48-51.
2002: Angela E Lin; Paul D Grossfeld; Robert Murray Hamilton; Leslie Smoot; Karen W Gripp; Virginia Proud; Rosanna Weksberg; Patricia Wheeler; Jonathan Picker; Mira Irons; Elaine Zackai; Bradley Marino; Charles I Scott; Linda Nicholson
Further delineation of cardiac abnormalities in Costello syndrome.
American journal of medical genetics 2002;111(2):115-29.
2002: Karen W Gripp; Charles I Scott; Linda Nicholson; Donna M McDonald-McGinn; J Daniel Ozeran; Marilyn C Jones; Angela E Lin; Elaine H Zackai
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.
American journal of medical genetics 2002;108(1):80-7.
2000: Karen W Gripp; Charles I Scott; Linda Nicholson; T E Figueroa
Second case of bladder carcinoma in a patient with Costello syndrome.
American journal of medical genetics 2000;90(3):256-9.
1997: R Wallerstein; Charles I Scott; Linda Nicholson
Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome.
American journal of medical genetics 1997;70(3):267-72.
1997: Karen W Gripp; Charles I Scott; H E Hughes; R Wallerstein; Linda Nicholson; Lisa States; Lynn Bason; P Kaplan; S A Zderic; Ann-Christine Duhaime; F Miller; M R Magnusson; Elaine H Zackai
Lateral meningocele syndrome: three new patients and review of the literature.
American journal of medical genetics 1997;70(3):229-39.
1997: Karen W Gripp; Charles I Scott; Linda Nicholson; G Magram; L E Grissom
Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda.
Skeletal radiology 1997;26(2):131-3.
1996: Karen W Gripp; Charles I Scott; B C Brockett; Linda Nicholson; W G Mackenzie
Extending the spectrum of distal arthrogryposis.
American journal of medical genetics 1996;65(4):286-90.
1996: Karen W Gripp; Charles I Scott; Linda Nicholson
Bilateral duplication of the primary ulnar ossification center in Ellis-van Creveld syndrome.
Clinical dysmorphology 1996;5(4):335-7.
1996: Karen W Gripp; Linda Nicholson; Charles I Scott
Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.
American journal of medical genetics 1996;61(4):382-6.
1994: P D Pizzutillo; M Woods; Linda Nicholson; G D MacEwen
Risk factors in Klippel-Feil syndrome.
Spine 1994;19(18):2110-6.
1994: F J Ramos Fuentes; Linda Nicholson; C I Scott
Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.
European journal of pediatrics 1994;153(7):483-7.