HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation
Gripp, Karen W., Lin, Angela E., Stabley, Deborah L., Nicholson, Linda, Scott Jr, Charles I., Doyle, Daniel, Aoki, Yoko, Matsubara, Yoichi, Zackai, Elaine H., Lapunzina, Pablo, Gonzalez-Meneses, Antonio, Holbrook, Jennifer, Agresta, Cynthia A., Gonzalez, Iris L., Sol-Church, Katia
Published in American journal of medical genetics. Part A (01.01.2006)
Published in American journal of medical genetics. Part A (01.01.2006)
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Journal Article
Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the vascular phenotype
Bober, Michael B., Khan, Nadia, Kaplan, Jennifer, Lewis, Kristi, Feinstein, Jeffrey A., Scott, Charles I., Steinberg, Gary K.
Published in American journal of medical genetics. Part A (01.04.2010)
Published in American journal of medical genetics. Part A (01.04.2010)
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Journal Article
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay
Baratela, Wagner A.R., Bober, Michael B., Tiller, George E., Okenfuss, Ericka, Ditro, Colleen, Duker, Angela, Krakow, Deborah, Stabley, Deborah L., Sol-Church, Katia, Mackenzie, William, Lachman, Ralph, Scott Jr, Charles I.
Published in American journal of medical genetics. Part A (01.08.2012)
Published in American journal of medical genetics. Part A (01.08.2012)
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Journal Article
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia
Ross, Judith L., Bellus, Gary, Scott Jr, Charles I., Abboudi, Jack, Grigelioniene, Giedre, Zinn, Andrew R.
Published in American journal of medical genetics. Part A (01.01.2003)
Published in American journal of medical genetics. Part A (01.01.2003)
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Journal Article
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol
Gripp, Karen W, Scott, Jr, Charles I, Nicholson, Linda, McDonald-McGinn, Donna M, Ozeran, J Daniel, Jones, Marilyn C, Lin, Angela E, Zackai, Elaine H
Published in American journal of medical genetics (15.02.2002)
Published in American journal of medical genetics (15.02.2002)
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Journal Article
Complete SHOX deficiency causes Langer mesomelic dysplasia
Zinn, Andrew R, Wei, Fanglin, Zhang, Ling, Elder, Frederick F, Scott, Jr, Charles I, Marttila, Pia, Ross, Judith L
Published in American journal of medical genetics (15.06.2002)
Published in American journal of medical genetics (15.06.2002)
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Journal Article
Further delineation of cardiac abnormalities in Costello syndrome
Lin, Angela E, Grossfeld, Paul D, Hamilton, Robert M, Smoot, Leslie, Gripp, Karen W, Proud, Virginia, Weksberg, Rosanna, Wheeler, Patricia, Picker, Jonathan, Irons, Mira, Zackai, Elaine, Marino, Bradley, Scott, Jr, Charles I, Nicholson, Linda
Published in American journal of medical genetics (01.08.2002)
Published in American journal of medical genetics (01.08.2002)
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Journal Article
Cervical spinal stenosis in metatropic dysplasia
Leet, Arabella I, Sampath, Jayanth S, Scott, Jr, Charles I, MacKenzie, William G
Published in Journal of pediatric orthopaedics (01.05.2006)
Published in Journal of pediatric orthopaedics (01.05.2006)
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Journal Article
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts
Gripp, Karen W., Johnson, Caitlyn, Scott, Charles I., Nicholson, Linda, Bober, Michael, Butler, Merlin G., Shaw, Linda, Gorlin, Robert J.
Published in American journal of medical genetics. Part A (15.02.2008)
Published in American journal of medical genetics. Part A (15.02.2008)
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Journal Article
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)
Tsirikos, Athanasios I., Mason, Dan E., Scott, Charles I., Chang, Wei‐Ning
Published in American journal of medical genetics. Part A (15.06.2003)
Published in American journal of medical genetics. Part A (15.06.2003)
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Journal Article
Hypercalciuria and urolithiasis in a case of Costello syndrome
ASSADI, F. K, SCOTT, C. I, MCKAY, C. P, NICHOLSON, L, CAFONE, M, HOPP, L, FATTORI, D. A
Published in Pediatric nephrology (Berlin, West) (01.01.1999)
Published in Pediatric nephrology (Berlin, West) (01.01.1999)
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Journal Article
Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the vascular phenotype
Bober, Michael B., Khan, Nadia, Kaplan, Jennifer, Lewis, Kristi, Feinstein, Jeffrey A., Scott Jr, Charles I., Steinberg, Gary K.
Published in American Journal of Medical Genetics Part A (01.04.2010)
Published in American Journal of Medical Genetics Part A (01.04.2010)
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Second case of bladder carcinoma in a patient with Costello syndrome
Gripp, K W, Scott, Jr, C I, Nicholson, L, Figueroa, T E
Published in American journal of medical genetics (31.01.2000)
Published in American journal of medical genetics (31.01.2000)
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Journal Article
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts
Gripp, Karen W., Johnson, Caitlyn, Scott Jr, Charles I., Nicholson, Linda, Bober, Michael, Butler, Merlin G., Shaw, Linda, Gorlin, Robert J.
Published in American Journal of Medical Genetics Part A (15.02.2008)
Published in American Journal of Medical Genetics Part A (15.02.2008)
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