Search Results - "Krantz, I"

Cornelia de Lange syndrome, cohesin, and beyond by Liu, J, Krantz, ID

“…Cornelia de Lange syndrome (CdLS) (OMIM #122470, #300590 and #610759) is a dominant genetic disorder with multiple organ system abnormalities which is…”
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Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis by Basel-Vanagaite, L., Wolf, L., Orin, M., Larizza, L., Gervasini, C., Krantz, I.D., Deardoff, M.A.

“…Facial analysis systems are becoming available to healthcare providers to aid in the recognition of dysmorphic phenotypes associated with a multitude of…”
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Tungiasis (sand flea disease): a parasitic disease with particular challenges for public health by Feldmeier, H., Sentongo, E., Krantz, I.

“…Tungiasis (sand flea disease) is caused by the penetration of females of Tunga penetrans into the skin of the feet. Within 2 weeks of penetration the burrowed…”
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CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability by Deniz, E., Pasha, M., Guerra, M.E., Viviano, S., Ji, W., Konstantino, M., Jeffries, L., Lakhani, S.A., Medne, L., Skraban, C., Krantz, I., Khokha, M.K.

“…Congenital heart disease (CHD) is the most common and lethal birth defect, affecting 1.3 million individuals worldwide. During early embryogenesis, errors in…”
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Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis by Salzano, E, Raible, SE, Kaur, M, Wilkens, A, Sperti, G, Tilton, RK, Bettini, LR, Rocca, A, Cocchi, G, Selicorni, A, Conlin, LK, McEldrew, D, Gupta, R, Thakur, S, Izumi, K, Krantz, ID

“…Pallister‐Killian syndrome (PKS) is a tissue limited mosaic disorder, characterized by variable degrees of neurodevelopmental delay and intellectual…”
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Consequences of JAG1 mutations by Kamath, B M, Bason, L, Piccoli, D A, Krantz, I D, Spinner, N B

“…Background: Alagille syndrome (AGS) is a multi-system, autosomal dominant disorder with highly variable expressivity, caused by mutations within the Jagged1…”
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Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate by Warthen, DM, Moore, EC, Kamath, BM, Morrissette, JJD, Sanchez, P, Piccoli, DA, Krantz, ID, Spinner, NB

“…Alagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and mutations have been previously reported in about 70% of patients who meet clinical…”
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Features of alagille syndrome in 92 patients: Frequency and relation to prognosis by Emerick, Karan M., Rand, Elizabeth B., Goldmuntz, Elizabeth, Krantz, Ian D., Spinner, Nancy B., Piccoli, David A.

“…We have studied 92 patients with Alagille syndrome (AGS) to determine the frequency of clinical manifestations and to correlate the clinical findings with…”
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Mutations in the human Jagged1 gene are responsible for Alagille syndrome by Oda, Takaya, Elkahloun, Abdel G, Pike, Brian L, Okajima, Kazuki, Krantz, Ian D, Genin, Anna, Piccoli, David A, Meltzer, Paul S, Spinner, Nancy B, Collins, Francis S, Chandrasekharappa, Settara C

“…Alagille syndrome (AGS) is an autosomal-dominant disorder characterized by intrahepatic cholestasis and abnormalities of heart, eye and vertebrae, as well as a…”
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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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Spectrum and Frequency of Jagged1 (JAG1) Mutations in Alagille Syndrome Patients and Their Families by Krantz, Ian D., Colliton, Raymond P., Genin, Anna, Rand, Elizabeth B., Li, Linheng, Piccoli, David A., Spinner, Nancy B.

“…Alagille syndrome (AGS) is a dominantly inherited disorder characterized by liver disease in combination with heart, skeletal, ocular, facial, renal, and…”
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Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate by Warthen, D. M., Moore, E. C., Kamath, B. M., Morrissette, J. J. D., Sanchez-Lara, P. A., Piccoli, D. A., Krantz, I. D., Spinner, N. B.

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Alagille syndrome by Krantz, I D, Piccoli, D A, Spinner, N B

“…Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial…”
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Association between low concentrations of antibodies to protein α and Rib and invasive neonatal group B streptococcal infection by Larsson, C, Lindroth, M, Nordin, P, Stålhammar-Carlemalm, M, Lindahl, G, Krantz, I

“…Background: Infection with group B streptococci (GBS) is a serious neonatal disease. The GBS cell surface proteins α and Rib elicit protective immunity in…”
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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1 by Li, L, Krantz, I D, Deng, Y, Genin, A, Banta, A B, Collins, C C, Qi, M, Trask, B J, Kuo, W L, Cochran, J, Costa, T, Pierpont, M E, Rand, E B, Piccoli, D A, Hood, L, Spinner, N B

“…Alagille syndrome is an autosomal dominant disorder characterized by abnormal development of liver, heart, skeleton, eye, face and, less frequently, kidney…”
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Female genital schistosomiasis as a risk-factor for the transmission of HIV by Feldmeier, H, Krantz, I, Poggensee, G

“…Sexually transmitted diseases increase the probability for HIV transmission, presumably through lesions in the genital mucosa. Female genital schistosomiasis,…”
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Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss by Bason, L, Dudley, T, Lewis, K, Shah, U, Potsic, W, Ferraris, A, Fortina, P, Rappaport, E, Krantz, ID

“…Mutations in the Connexin 26 (Cx26) gene have been found to account for approximately 20% of all childhood deafness. This number approaches 50% in documented…”
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Diagnosis of genital cervical schistosomiasis: comparison of cytological, histopathological and parasitological examination by Poggensee, G, Sahebali, S, Van Marck, E, Swai, B, Krantz, I, Feldmeier, H

“…Granulomatous inflammation of the cervix uteri is a common manifestation of infection with Schistosoma haematobium. In women the cervix is the most common site…”
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Ethics of screening for asymptomatic herpes virus type 2 infection by Krantz, Ingela, Löwhagen, Gun-Britt, Ahlberg, Beth Maina, Nilstun, Tore

“…Commercial tests for herpes simplex virus are now widely available, and some experts have advocated screening. But can screening be ethical when false positive…”
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Influence of infant feeding and gluten intake on coeliac disease by Ascher, H, Krantz, I, Rydberg, L, Nordin, P, Kristiansson, B

“…OBJECTIVES To study the impact of infant feeding habits and actual gluten intake on gluten induced enteropathy. METHODS A case-referent design, controlling for…”
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