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Early-Lethal Costello Syndrome Due to Rare HRAS Tandem Base Substitution (c.35_36GC>AA; p.G12E)-Associated Pulmonary Vascular Disease.
Published in:
Pediatric & Developmental Pathology, 2014, v. 17, n. 6, p. 421, doi. 10.2350/14-05-1488-OA.1
By:
- WEAVER, K. NICOLE;
- WANG, DEHUA;
- CNOTA, JAMES;
- GARDNER, NICHOLAS;
- STABLEY, DEBORAH;
- SOL-CHURCH, KATIA;
- GRIPP, KAREN W.;
- WITTE, DAVID P.;
- BOVE, KEVIN E.;
- HOPKIN, ROBERT J.
Publication type:
Article
Medically actionable comorbidities in adults with Costello syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 130, doi. 10.1002/ajmg.a.61394
By:
- Shikany, Amy R.;
- Baker, Laura;
- Stabley, Deborah L.;
- Robbins, Katherine;
- Doyle, Daniel;
- Gripp, Karen W.;
- Weaver, K. Nicole
Publication type:
Article
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1294, doi. 10.1002/ajmg.a.38174
By:
- Schwartz, David D.;
- Katzenstein, Jennifer M.;
- Highley, Eric J.;
- Stabley, Deborah L.;
- Sol‐Church, Katia;
- Gripp, Karen W.;
- Axelrad, Marni E.
Publication type:
Article
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1309, doi. 10.1002/ajmg.a.38178
By:
- Bertola, Débora;
- Buscarilli, Michelle;
- Stabley, Deborah L.;
- Baker, Laura;
- Doyle, Daniel;
- Bartholomew, Dennis W.;
- Sol‐Church, Katia;
- Gripp, Karen W.
Publication type:
Article
Paternal Uniparental Disomy with Segmental Loss of Heterozygosity of Chromosome 11 are Hallmark Characteristics of Syndromic and Sporadic Embryonal Rhabdomyosarcoma.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3197, doi. 10.1002/ajmg.a.37949
By:
- Robbins, Katherine M.;
- Stabley, Deborah L.;
- Holbrook, Jennifer;
- Sahraoui, Rebecca;
- Sadreameli, Alexa;
- Conard, Katrina;
- Baker, Laura;
- Gripp, Karen W.;
- Sol‐Church, Katia
Publication type:
Article
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2237, doi. 10.1002/ajmg.a.37781
By:
- Gripp, Karen W.;
- Aldinger, Kimberly A.;
- Bennett, James T.;
- Baker, Laura;
- Tusi, Jessica;
- Powell‐Hamilton, Nina;
- Stabley, Deborah;
- Sol‐Church, Katia;
- Timms, Andrew E.;
- Dobyns, William B.
Publication type:
Article
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 559, doi. 10.1002/ajmg.a.37471
By:
- Gripp, Karen W.;
- Robbins, Katherine M.;
- Sheffield, Brandon S.;
- Lee, Anna F.;
- Patel, Millan S.;
- Yip, Stephen;
- Doyle, Daniel;
- Stabley, Deborah;
- Sol‐Church, Katia
Publication type:
Article
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2085, doi. 10.1002/ajmg.a.37128
By:
- Gripp, Karen W.;
- Sol‐Church, Katia;
- Smpokou, Patroula;
- Graham, Gail E.;
- Stevenson, David A.;
- Hanson, Heather;
- Viskochil, David H.;
- Baker, Laura C.;
- Russo, Bridget;
- Gardner, Nick;
- Stabley, Deborah L.;
- Kolbe, Verena;
- Rosenberger, Georg
Publication type:
Article
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 271, doi. 10.1002/ajmg.a.36863
By:
- Gripp, Karen W.;
- Robbins, Katherine M.;
- Sobreira, Nara L.;
- Witmer, P. Dane;
- Bird, Lynne M.;
- Avela, Kristiina;
- Makitie, Outi;
- Alves, Daniela;
- Hogue, Jacob S.;
- Zackai, Elaine H.;
- Doheny, Kimberly F.;
- Stabley, Deborah L.;
- Sol‐Church, Katia
Publication type:
Article
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2240, doi. 10.1002/ajmg.a.36633
By:
- Gripp, Karen W.;
- Curry, Cynthia;
- Olney, Ann Haskins;
- Sandoval, Claudio;
- Fisher, Jamie;
- Chong, Jessica Xiao‐Ling;
- Pilchman, Lisa;
- Sahraoui, Rebecca;
- Stabley, Deborah L.;
- Sol‐Church, Katia
Publication type:
Article
Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2420, doi. 10.1002/ajmg.a.36098
By:
- Gripp, Karen W.;
- Zand, Dina J.;
- Demmer, Laurie;
- Anderson, Carol E.;
- Dobyns, William B.;
- Zackai, Elaine H.;
- Denenberg, Elizabeth;
- Jenny, Kim;
- Stabley, Deborah L.;
- Sol‐Church, Katia
Publication type:
Article
Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2258, doi. 10.1002/ajmg.a.36078
By:
- Schwartz, David D.;
- KatzENstein, JENnifer M.;
- Hopkins, Elisabeth;
- Stabley, Deborah L.;
- Sol ‐ Church, Katia;
- Gripp, KarEN W.;
- Axelrad, Marni E.
Publication type:
Article
Normative growth charts for individuals with Costello syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2692, doi. 10.1002/ajmg.a.35534
By:
- Sammon, Mary R.;
- Doyle, Dan;
- Hopkins, Elizabeth;
- Sol-Church, Katia;
- Stabley, Deborah L.;
- McGready, John;
- Schulze, Kerry;
- Alade, Yewande;
- Hoover-Fong, Julie;
- Gripp, Karen W.
Publication type:
Article
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2106, doi. 10.1002/ajmg.a.35449
By:
- Gripp, Karen W.;
- Bifeld, Eugenia;
- Stabley, Deborah L.;
- Hopkins, Elizabeth;
- Meien, Stefanie;
- Vinette, Kathy;
- Sol-Church, Katia;
- Rosenberger, Georg
Publication type:
Article
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.
Published in:
2012
By:
- 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, Charles I.
Publication type:
Other
Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1095, doi. 10.1002/ajmg.a.35294
By:
- Gripp, Karen W.;
- Hopkins, Elizabeth;
- Serrano, Alvaro;
- Leonard, Norma J.;
- Stabley, Deborah L.;
- Sol-Church, Katia
Publication type:
Article
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.
Published in:
BMC Urology, 2016, v. 16, p. 1, doi. 10.1186/s12894-016-0180-4
By:
- Yanping Wang;
- Jin Li;
- Kolon, Thomas F.;
- Fisher, Alicia Olivant;
- Figueroa, T. Ernesto;
- BaniHani, Ahmad H.;
- Hagerty, Jennifer A.;
- Gonzalez, Ricardo;
- Noh, Paul H.;
- Chiavacci, Rosetta M.;
- Harden, Kisha R.;
- Abrams, Debra J.;
- Stabley, Deborah;
- Kim, Cecilia E.;
- Sol-Church, Katia;
- Hakonarson, Hakon;
- Devoto, Marcella;
- Barthold, Julia Spencer
Publication type:
Article
Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 6, p. 781, doi. 10.1038/sj.ejhg.5201411
By:
- Devoto, Marcella;
- Spotila, Loretta D;
- Stabley, Deborah L;
- Wharton, Gina N;
- Rydbeck, Halfdan;
- Korkko, Jarmo;
- Kosich, Richard;
- Prockop, Darwin;
- Tenenhouse, Alan;
- Sol-Church, Katia
Publication type:
Article
Murine Spam1 mRNA: Involvement of AU‐rich elements in the 3′UTR and antisense RNA in its tight post‐transcriptional regulation in spermatids.
Published in:
Molecular Reproduction & Development, 2006, v. 73, n. 2, p. 247, doi. 10.1002/mrd.20400
By:
- Hong Zhang;
- Barry L. Barnoski;
- Katia Sol‐Church;
- Deborah L. Stabley;
- Patricia A. Martin‐DeLeon
Publication type:
Article
Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient.
Published in:
Frontiers in Oncology, 2017, v. 7, p. 1, doi. 10.3389/fonc.2017.00042
By:
- Cartledge, Donna M.;
- Robbins, Katherine M.;
- Drake, Katherine M.;
- Sternberg, Rachel;
- Stabley, Deborah L.;
- Gripp, Karen W.;
- Kolb, E. Anders;
- Sol-Church, Katia;
- Napper, Andrew D.
Publication type:
Article
A PLP splicing abnormality is associated with an unusual presentation of PMD.
Published in:
Annals of Neurology, 2002, v. 52, n. 4, p. 477, doi. 10.1002/ana.10320
By:
- Hobson, Grace M.;
- Huang, Zhong;
- Sperle, Karen;
- Stabley, Deborah L.;
- Marks, Harold G.;
- Cambi, Franca
Publication type:
Article
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.
Published in:
Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 248, doi. 10.1002/mgg3.141
By:
- Stabley, Deborah L.;
- Harris, Ashlee W.;
- Holbrook, Jennifer;
- Chubbs, Nicholas J.;
- Lozo, Kevin W.;
- Crawford, Thomas O.;
- Swoboda, Kathryn J.;
- Funanage, Vicky L.;
- Wang, Wenlan;
- Mackenzie, William;
- Scavina, Mena;
- Sol‐Church, Katia;
- Butchbach, Matthew E. R.
Publication type:
Article
An Integrated Approach for Analyzing Clinical Genomic Variant Data from Next-Generation Sequencing.
Published in:
Journal of Biomolecular Techniques, 2015, v. 26, n. 1, p. 19, doi. 10.7171/jbt.15-2601-002
By:
- Crowgey, Erin L.;
- Stabley, Deborah L.;
- Chuming Chen;
- Hongzhan Huang;
- Robbins, Katherine M.;
- Polson, Shawn W.;
- Sol-Church, Katia;
- Wu, Cathy H.
Publication type:
Article
A phase I trial and viral clearance study of reovirus (Reolysin) in children with relapsed or refractory extra-cranial solid tumors: A Children's Oncology Group Phase I Consortium report.
Published in:
Pediatric Blood & Cancer, 2015, v. 62, n. 5, p. 751, doi. 10.1002/pbc.25464
By:
- Kolb, E. Anders;
- Sampson, Valerie;
- Stabley, Deborah;
- Walter, Alexa;
- Sol‐Church, Katia;
- Cripe, Timothy;
- Hingorani, Pooja;
- Ahern, Charlotte Hsieh;
- Weigel, Brenda J.;
- Zwiebel, James;
- Blaney, Susan M.
Publication type:
Article
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2263, doi. 10.1002/ajmg.a.34150
By:
- Gripp, Karen W.;
- Stabley, Deborah L.;
- Geller, Peter L.;
- Hopkins, Elizabeth;
- Stevenson, David A.;
- Carey, John C.;
- Sol-Church, Katia
Publication type:
Article
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 706, doi. 10.1002/ajmg.a.33884
By:
- Gripp, Karen W.;
- Hopkins, Elizabeth;
- Sol-Church, Katia;
- Stabley, Deborah L.;
- Axelrad, Marni E.;
- Doyle, Daniel;
- Dobyns, William B.;
- Hudson, Cindy;
- Johnson, John;
- Tenconi, Romano;
- Graham, Gail E.;
- Sousa, Ana Berta;
- Heller, Raoul;
- Piccione, Maria;
- Corsello, Giovanni;
- Herman, Gail E.;
- Tartaglia, Marco;
- Lin, Angela E.
Publication type:
Article
CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 605, doi. 10.1002/ajmg.a.33787
By:
- Papadopoulou, Eleftheria;
- Sifakis, Stavros;
- Sol-Church, Katia;
- Klein-Zighelboim, Eva;
- Stabley, Deborah L.;
- Raissaki, Maria;
- Gripp, Karen W.;
- Kalmanti, Maria
Publication type:
Article
Paternal bias in parental origin of HRAS mutations in Costello syndrome.
Published in:
Human Mutation, 2006, v. 27, n. 8, p. 736, doi. 10.1002/humu.20381
By:
- Sol-Church, Katia;
- Stabley, Deborah L.;
- Nicholson, Linda;
- Gonzalez, Iris L.;
- Gripp, Karen W.
Publication type:
Article
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.
Published in:
Neurogenetics, 2021, v. 22, n. 1, p. 53, doi. 10.1007/s10048-020-00630-5
By:
- Stabley, Deborah L.;
- Holbrook, Jennifer;
- Scavina, Mena;
- Crawford, Thomas O.;
- Swoboda, Kathryn J.;
- Robbins, Katherine M.;
- Butchbach, Matthew E. R.
Publication type:
Article
A new polymorphism in the proteolipid protein ( PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 152, doi. 10.1002/1098-1004(200102)17:2<152::AID-HUMU9>3.0.CO;2-P
By:
- Hobson, Grace M.;
- Stabley, Deborah L.;
- Funanage, Vicky L.;
- Marks, Harold G.
Publication type:
Article

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