Search Results - "Willner, Judith P."

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency by Soorya, Latha, Kolevzon, Alexander, Zweifach, Jessica, Lim, Teresa, Dobry, Yuriy, Schwartz, Lily, Frank, Yitzchak, Wang, A Ting, Cai, Guiqing, Parkhomenko, Elena, Halpern, Danielle, Grodberg, David, Angarita, Benjamin, Willner, Judith P, Yang, Amy, Canitano, Roberto, Chaplin, William, Betancur, Catalina, Buxbaum, Joseph D

“…22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed…”
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Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita by Alter, Blanche P., Baerlocher, Gabriela M., Savage, Sharon A., Chanock, Stephen J., Weksler, Babette B., Willner, Judith P., Peters, June A., Giri, Neelam, Lansdorp, Peter M.

“…Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which the known susceptibility genes (DKC1, TERC, and TERT) belong to the telomere…”
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Analysis of a purported SHANK3 mutation in a boy with autism: Clinical impact of rare variant research in neurodevelopmental disabilities by Kolevzon, Alexander, Cai, Guiqing, Soorya, Latha, Takahashi, Nagahide, Grodberg, David, Kajiwara, Yuji, Willner, Judith P, Tryfon, Ana, Buxbaum, Joseph D

“…Abstract There is strong evidence for rare, highly penetrant genetic variants playing an etiological role in multiple neurodevelopmental disabilities,…”
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A Mutation of PCDH15 among Ashkenazi Jews with the Type 1 Usher Syndrome by Ben-Yosef, Tamar, Ness, Seth L, Madeo, Anne C, Bar-Lev, Adi, Wolfman, Jessica H, Ahmed, Zubair M, Desnick, Robert J, Willner, Judith P, Avraham, Karen B, Ostrer, Harry, Oddoux, Carole, Griffith, Andrew J, Friedman, Thomas B

“…The Usher syndrome, the most frequent cause of deafness and concurrent blindness, occurs with increased frequency in Ashkenazi Jews. The authors of this study…”
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Infantile systemic hyalinosis by Shin, Helen T, Paller, Amy, Hoganson, George, Willner, Judith P, Chang, Mary Wu, Orlow, Seth J

“…Infantile systemic hyaloinosis is a rare, progressive, and fatal disease that is inherited in an autosomal recessive fashion. We describe 2 patients in whom…”
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Inherited duplication of Xq27.1-qter detected by comparative genomic hybridization in a male with seizure disorder: Report of a patient and review of the literature by TOPALOĞLU, A. Kemal, HIRSCHHORM, Kurt, WILLNER, Judith P, LEVY, Brynn

“…Purpose: Males with Xq partial disomies provide information on the phenotypic consequences of duplicated genetic material on the long arm of the X chromosome,…”
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Analysis of a purported SHANK3 mutation in a boy with autism: Clinical impact of rare variant research in neurodevelopmental disabilities: The Emerging Neuroscience of Autism Spectrum Disorders by KOLEVZON, Alexander, GUIQING CAI, SOORYA, Latha, TAKAHASHI, Nagahide, GRODBERG, David, KAJIWARA, Yuji, WILLNER, Judith P, TRYFON, Ana, BUXBAUM, Joseph D

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Paternal uniparental disomy for chromosome 14: A case report and review by Cotter, Philip D., Kaffe, Sara, McCurdy, Leslie D., Jhaveri, Meenakshi, Willner, Judith P., Hirschhorn, Kurt

“…Uniparental disomy (UPD) for several chromosomes has been associated with disease phenotypes. Maternal UPD for chromosome 14 has been described and has a…”
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Telomere Length Measurement by Flow-FISH Distinguishes Dyskeratosis Congenita from Other Bone Marrow Failure Syndromes by Alter, Blanche P., Baerlocher, Gabriela, Savage, Sharon A., Chanock, Stephen Jacob, Weksler, Babette B., Willner, Judith P., Peters, June A., Lansdorp, Peter M.

“…This study was designed to evaluate the utility of flow-FISH telomere length measurement in white blood cells (WBC) as a screening test for Dyskeratosis…”
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Prenatal diagnosis of trisomy 4 mosaicism by Zaslav, Ann-Leslie, Blumenthal, Donna, Willner, Judith P., Pierno, Guy, Jacob, Jesse, Fox, Joyce E.

“…Trisomy 4 mosaicism is rare. To our knowledge only two cases of prenatally diagnosed trisomy 4 mosaicism have been reported. One case resulted in a normal…”
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Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with Pycnodysostosis by Gelb, Bruce D., Willner, Judith P., Dunn, Teresa M., Kardon, Nataline B., Verloes, Alain, Poncin, Jacques, Desnick, Robert J.

“…Molecular analysis of a patient affected by the autosomal recessive skeletal dysplasia, pycnodysostosis (cathepsin K deficiency; MIM 265800), revealed…”
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Genetic evaluation and counseling in head and neck syndromes by Willner, J P

“…Genetic diagnosis and counseling are dynamic areas of clinical medicine that must keep pace with the rapid advances in developmental and molecular biology…”
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Craniosynostosis-radial aplasia: Baller-Gerold syndrome by Feingold, M, Sklower, S L, Willner, J P, Desnick, R H, Cohen, M M

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Prenatal diagnosis and outcome of mosaicism for ade novo unbalanced translocation identified in amniocytes by Cotter, Philip D., Babu, Arvind, Willner, Judith P., Desnick, Robert J.

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Reproductive genetics and today's patient options: prenatal diagnosis by Willner, J P

“…Rapid and safe prenatal diagnosis has become the standard of care in high-risk pregnancy. The safety and reliability of prenatal diagnosis by mid-trimester…”
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Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth‐retarded male: mos47,XXY/48,XXY, + r(X) by Manea, Susan R., Gershin, Irina F., Babu, Arvind, Willner, Judith P., Desnick, Robert J., Cotter, Philip D.

“…Supernumerary ring X [r(X)] chromosomes are often found in patients with Turner syndrome. The phenotypic effects of the r(X) chromosome are variable, and…”
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Prenatal diagnosis and outcome of mosaicism for a de novo unbalanced translocation identified in amniocytes by Cotter, Philip D., Babu, Arvind, Willner, Judith P., Desnick, Robert J.

“…Mosaicism for an unbalanced reciprocal translocation was identified in cultured amniocytes of a 16‐week‐old fetus; mos46,XX,der(4)t(4;5)(q34;q12)/46,XX…”
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Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases by Willner, J P, Grabowski, G A, Gordon, R E, Bender, A N, Desnick, R J

“…A progressive spinocerebellar degenerative disorder was characterized in nine patients, aged 11 to 37 years, from four unrelated Ashkenazi Jewish families;…”
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Congenital myotonic dystrophy: an often unsuspected cause of severe polyhydramnios by Levine, A B, Eddleman, K A, Chitkara, U, Willner, J P, Vosatka, R J, Berkowitz, R L

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Chronic GM 2 gangliosidosis masquerading as atypical Friedreich ataxia: Clinical, morphologic, and biochemical studies of nine cases by Willner, Judith P., Grabowski, Gregory A., Gordon, Ronald E., Bender, Adam N., Desnick, Robert J.

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