Search Results - "ZONANA, J"

Dental Abnormalities in Schimke Immuno-osseous Dysplasia by Morimoto, M., Kérourédan, O., Gendronneau, M., Shuen, C., Baradaran-Heravi, A., Asakura, Y., Basiratnia, M., Bogdanović, R., Bonneau, D., Buck, A., Charrow, J., Cochat, P., DeHaai, K.A., Fenkçi, M.S., Frange, P., Fründ, S., Fryssira, H., Keller, K., Kirmani, S., Kobelka, C., Kohler, K., Lewis, D.B., Massella, L., McLeod, D.R., Milford, D.V., Nobili, F., Olney, A.H., Semerci, C.N., Stajić, N., Stein, A., Taque, S., Zonana, J., Lücke, T., Hendson, G., Bonnaure-Mallet, M., Boerkoel, C.F.

“…Described for the first time in 1971, Schimke immuno-osseous dysplasia (SIOD) is an autosomal-recessive multisystem disorder that is caused by bi-allelic…”
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Processing of environmental sounds in schizophrenic patients: disordered recognition and lack of semantic specificity by Tüscher, O., Silbersweig, D., Pan, H., Smith, T., Beutel, M., Zonana, J., Erbesh, V., Weisholtz, D., Stern, E., Engelien, A.

“…The recognition of environmental sounds is an important feature of higher auditory processing and essential for everyday life. The present study aimed to…”
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Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder by MUNOZ, F, LESTRINGANT, G, SYBERT, V, FRYDMAN, M, ALSWAINI, A, FROSSARD, P. M, JORGENSON, R, ZONANA, J

“…A crucial issue in genetic counseling is the recognition of nonallelic genetic heterogeneity. Hypohidrotic (anhidrotic) ectodermal dysplasia (HED), a genetic…”
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Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications by Ferguson, B M, Thomas, N S, Munoz, F, Morgan, D, Clarke, A, Zonana, J

“…Indirect molecular diagnosis of X linked hypohidrotic ectodermal dysplasia (XLHED), a congenital disorder of hair, teeth, and eccrine sweat glands, has been…”
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Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports by Wardinsky, T D, Pagon, R A, Powell, B R, McGillivray, B, Stephan, M, Zonana, J, Moser, A

“…Rhizomelic chondrodysplasia punctata (RCDP), a peroxisomal disorder, is considered to be a lethal neonatal autosomal recessive chondrodysplasia. We report five…”
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Dinucleotide repeat polymorphism at the DXYS1X locus by BROWNE, D. L, ZONANA, J, LITT, M

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Hypohidrotic (anhidrotic) ectodermal dysplasia: molecular genetic research and its clinical applications by Zonana, J

“…X-linked hypohidrotic (anhidrotic) ectodermal dysplasia (EDA) results in abnormal morphogenesis of the teeth, hair, and eccrine sweat glands. The disorder is…”
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Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment by ZONANA, J, GAULT, J, DAVIES, K. J. P, JONES, M, BROWNE, D, LITT, M, BROCKDORFF, N, RASTAN, S, CLARKE, A, THOMAS, N. S. T

“…X-linked hypohidrotic ectodermal dysplasia (EDA) has been localized to the Xq12-q13.1 region. A panel of genomic DNA samples from 80 unrelated males with EDA…”
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High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus by ZONANA, J, JONES, M, THOMAS, N. S. T, BROWNE, D, LITT, M, KRAMER, P, BECKER, H. W, BROCKDORFF, N, RASTAN, S, DAVIES, K. P, CLARKE, A

“…The X-linked hypohidrotic ectodermal dysplasia (EDA) locus has been previously localized to the subchromosomal region Xq11-q21.1. We have extended our previous…”
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Gene defect in ectodermal dysplasia implicates a death domain adapter in development by Overbeek, Paul A, Headon, Denis J, Emmal, Stephanie A, Ferguson, Betsy M, Tucker, Abigail S, Justice, Monica J, Sharpe, Paul T, Zonana, Jonathan

“…Members of the tumour-necrosis factor receptor (TNFR) family that contain an intracellular death domain initiate signalling by recruiting cytoplasmic death…”
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A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma ( NEMO) by Zonana, Jonathan, Elder, Melissa E., Schneider, Lynda C., Orlow, Seth J., Moss, Celia, Golabi, Mahin, Shapira, Stuart K., Farndon, Peter A., Wara, Diane W., Emmal, Stephanie A., Ferguson, Betsy M.

“…Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait,…”
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Dinucleotide repeat polymorphism at the PGK1P1 locus by Browne, D.L., Zonana, J., Litt, M.

“…Images…”
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Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia by Zonana, J, Jones, M, Clarke, A, Gault, J, Muller, B, Thomas, N S

“…Hypohidrotic ectodermal dysplasia (EDA) has been localised to the q12-q13.1 region of the X chromosome by both physical and genetic mapping methods. Although…”
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Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations by Rosenfeld, Jill A, Leppig, Kathleen, Ballif, Blake C, Thiese, Heidi, Erdie-Lalena, Christine, Bawle, Erwati, Sastry, Sujatha, Spence, J Edward, Bandholz, Anne, Surti, Urvashi, Zonana, Jonathan, Keller, Kory, Meschino, Wendy, Bejjani, Bassem A, Torchia, Beth S, Shaffer, Lisa G

“…Purpose: Pitt-Hopkins syndrome is characterized by severe mental retardation, characteristic dysmorphic features, and susceptibility to childhood-onset…”
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X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis by ZONANA, J, CLARKE, A, SARFARAZI, M, THOMAS, N. S. T, ROBERTS, K, MARYMEE, K, HARPER, P. S

“…X-linked hypohidrotic ectodermal dysplasia (H.E.D.) is a disorder of abnormal morphogenesis of ectodermal structures and is of unknown pathogenesis. Neither…”
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Dinucleotide repeat polymorphism at the PGK1 locus by BROWNE, D. L, ZONANA, J, LITT, M

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Mutations Leading to X-linked Hypohidrotic Ectodermal Dysplasia Affect Three Major Functional Domains in the Tumor Necrosis Factor Family Member Ectodysplasin-A by Schneider, Pascal, Street, Summer L., Gaide, Olivier, Hertig, Sylvie, Tardivel, Aubry, Tschopp, Jürg, Runkel, Laura, Alevizopoulos, Konstantinos, Ferguson, Betsy M., Zonana, Jonathan

“…Mutations in the epithelial morphogen ectodysplasin-A (EDA), a member of the tumor necrosis factor (TNF) family, are responsible for the human disorder…”
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The Neurobiology of Postpartum Depression by Zonana, Jessica, Gorman, Jack M.

“…Postpartum psychiatric changes can range from maternity blues to psychosis. Causality is still undetermined, but explanations for these disturbances often…”
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Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X-Linked Hypohidrotic Ectodermal Dysplasia Mutations by Monreal, Alex W., Zonana, Jonathan, Ferguson, Betsy

“…X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common of the ectodermal dysplasias, results in the abnormal development of teeth, hair, and…”
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Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia by Ferguson, Betsy M, Monreal, Alex W, Headon, Denis J, Street, Summer L, Overbeek, Paul A, Zonana, Jonathan

“…X-linked hypohidrotic ectodermal dysplasia results in abnormal morphogenesis of teeth, hair and eccrine sweat glands. The gene (ED1) responsible for the…”
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