Search Results - "Yaeger, Dinah"

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome by Kaur, Maninder, DeScipio, Cheryl, McCallum, Jennifer, Yaeger, Dinah, Devoto, Marcella, Jackson, Laird G., Spinner, Nancy B., Krantz, Ian D.

“…The Cornelia de Lange syndrome (CdLS) (OMIM# 122470) is a dominantly inherited multisystem developmental disorder. The phenotype consists of characteristic…”
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Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation by Deardorff, Matthew A., Kaur, Maninder, Yaeger, Dinah, Rampuria, Abhinav, Korolev, Sergey, Pie, Juan, Gil-Rodríguez, Concepcion, Arnedo, María, Loeys, Bart, Kline, Antonie D., Wilson, Meredith, Lillquist, Kaj, Siu, Victoria, Ramos, Feliciano J., Musio, Antonio, Jackson, Laird S., Dorsett, Dale, Krantz, Ian D.

“…Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively…”
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Cornelia de Lange syndrome is caused by mutations in NIPBL , the human homolog of Drosophila melanogaster Nipped-B by Rappaport, Eric, Morris, Colleen A, Bamshad, Michael J, Calof, Anne L, Li, Hui-hua, Bottani, Armand, Gillis, Lynette A, Krantz, Ian D, Wasserman, Nora, DeScipio, Cheryl, Nowaczyk, Malgorzata J M, Lander, Arthur D, McCallum, Jennifer, Jukofsky, Lori, Devoto, Marcella, Kaur, Maninder, Kawauchi, Shimako, Yaeger, Dinah, Jackson, Laird G, Carey, John C, Toriello, Helga

“…Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by growth and cognitive retardation;…”
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NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations by Gillis, Lynette A., McCallum, Jennifer, Kaur, Maninder, DeScipio, Cheryl, Yaeger, Dinah, Mariani, Allison, Kline, Antonie D., Li, Hui-hua, Devoto, Marcella, Jackson, Laird G., Krantz, Ian D.

“…The Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by facial dysmorphia, upper-extremity malformations, hirsutism,…”
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Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals by DeScipio, Cheryl, Spinner, Nancy B., Kaur, Maninder, Yaeger, Dinah, Conlin, Laura K., Ambrosini, Anthony, Hu, Sufen, Shan, Simei, Krantz, Ian D., Riethman, Harold

“…Human subtelomere regions contain numerous gene‐rich segments and are susceptible to germline rearrangements. The availability of diagnostic test kits to…”
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Assessing parental attitudes toward genetic testing for childhood hearing loss: Before and after genetic consultation by Li, Yuelin, Steinberg, Annie G., Bain, Lisa, Yaeger, Dinah, Bieler, Ari, Ewing, Rachel, Kaimal, Girija, Krantz, Ian

“…We report on the development of a Genetic Attitude Assessment Tool (GAAT) to measure parental attitudes in contemplating genetic testing for childhood hearing…”
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Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: Who should be offered GJB2 testing? by Kenna, Margaret A., Rehm, Heidi L., Robson, Caroline D., Frangulov, Anna, McCallum, Jennifer, Yaeger, Dinah, Krantz, Ian D.

“…Sensorineural hearing loss (SNHL), the most common sensory impairment noted at birth, occurs in 3 out of every 1,000 births live births. At least half of…”
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Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome by DeScipio, Cheryl, Schneider, Lori, Young, Terri L., Wasserman, Nora, Yaeger, Dinah, Lu, Fengmin, Wheeler, Patricia G., Williams, Marc S., Bason, Lynn, Jukofsky, Lori, Menon, Ammini, Geschwindt, Ryan, Chudley, Albert E., Saraiva, Jorge, Schinzel, Albert A. G. L., Guichet, Agnes, Dobyns, William E., Toutain, Annick, Spinner, Nancy B., Krantz, Ian D.

“…We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon,…”
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Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic by Yaeger, Dinah, McCallum, Jennifer, Lewis, Kathy, Soslow, Lisa, Shah, Udayan, Potsic, William, Stolle, Catherine, Krantz, Ian D.

“…Hearing loss (HL) occurs in approximately 2 out of every 1,000 births and is genetic in origin in approximately 50% of cases. This high incidence coupled with…”
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Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements by DeScipio, Cheryl, Kaur, Maninder, Yaeger, Dinah, Innis, Jeffrey W., Spinner, Nancy B., Jackson, Laird G., Krantz, Ian D.

“…Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and…”
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Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations : Who should be offered GJB2 testing?: Special issue: The genetic basis of deafness by KENNA, Margaret A, REHM, Heidi L, ROBSON, Caroline D, FRANGULOV, Anna, MCCALLUM, Jennifer, YAEGER, Dinah, KRANTZ, Ian D

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Assessing parental attitudes toward genetic testing for childhood hearing loss : Before and after genetic consultation: Special issue: The genetic basis of deafness by YUELIN LI, STEINBERG, Annie G, BAIN, Lisa, YAEGER, Dinah, BIELER, Ari, EWING, Rachel, KAIMAL, Girija, KRANTZ, Ian

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Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study by Nallasamy, Sudha, Kherani, Femida, Yaeger, Dinah, McCallum, Jennifer, Kaur, Maninder, Devoto, Marcella, Jackson, Laird G, Krantz, Ian D, Young, Terri L

“…To evaluate individuals with Cornelia de Lange syndrome previously screened for mutations in the NIPBL gene for genotype-phenotype correlations with regard to…”
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