Search Results - "Sujansky, Eva"

Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children by Sujansky, E, Conradi, S

“…Data were obtained on 171 individuals with Sturge-Weber syndrome via questionnaire and medical records. The age of the study group ranged from 2 months to 59…”
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Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion by Riccardi, V M, Sujansky, E, Smith, A C, Francke, U

“…The triad of aniridia, ambiguous genitalia, and mental retardation (AGR triad) is the characteristic clinical feature of three unrelated patients with…”
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Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly by MING, Jeffrey E, KAUPAS, Michelle E, ROESSLER, Erich, BRUNNER, Han G, GOLABI, Mahin, TEKIN, Mustafa, STRATTON, Robert F, SUJANSKY, Eva, BALE, Sherri J, MUENKE, Maximilian

“…Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and…”
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Outcome of Sturge-Weber syndrome in 52 adults by Sujansky, E, Conradi, S

“…Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by cutaneous facial angioma, leptomeningeal angioma associated with seizures and other…”
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Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects by GIGLIO, S, GRAW, S. L, DIGILIO, M. C, GIANNOTTI, A, MARINO, B, CARROZZO, R, KORENBERG, J. R, DANESINO, C, SUJANSKY, E, DALLAPICCOLA, B, ZUFFARDI, O, GIMELLI, G, PIROLA, B, VARONE, P, VOULLAIRE, L, LERZO, F, ROSSI, E, DELLAVECCHIA, C, BONAGLIA, M. C

“…Cytogenetic evidence suggests that the haploinsufficiency of > or =1 gene located in 8p23 behaves as a dominant mutation, impairing heart differentiation and…”
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Cloning, Sequencing, and Analysis of Inv8 Chromosome Breakpoints Associated with Recombinant 8 Syndrome by Graw, Sharon L., Sample, Timothy, Bleskan, John, Sujansky, Eva, Patterson, David

“…Rec8 syndrome (also known as “recombinant 8 syndrome” and “San Luis Valley syndrome”) is a chromosomal disorder found in individuals of Hispanic descent with…”
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Duty to re-contact by Hirschhorn, K, Fleisher, L D, Godmilow, L, Howell, R R, Lebel, R R, McCabe, E R, McGinniss, M J, Milunsky, A, Pelias, M Z, Pyeritz, R E, Sujansky, E, Thompson, B H, Zinberg, R E

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Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly by Ming, Jeffrey, Kaupas, Michelle, Roessler, Erich, Brunner, Han, Golabi, Mahin, Tekin, Mustafa, Stratton, Robert, Sujansky, Eva, Bale, Sherri, Muenke, Maximilian

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Neurofibromatosis type 1 and pregnancy by Dugoff, Lorraine, Sujansky, Eva

“…Neurofibromatosis Type 1 (NF‐1) is an autosomal dominant condition which has markedly variable clinical expression, with manifestations ranging from mild…”
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Linkage heterogeneity of autosomal dominant polycystic kidney disease by Kimberling, W J, Fain, P R, Kenyon, J B, Goldgar, D, Sujansky, E, Gabow, P A

“…Autosomal dominant polycystic kidney disease has been shown to be closely linked to the alpha-hemoglobin complex on the short arm of chromosome 16. We describe…”
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Human beta-mannosidase deficiency by Wenger, D A, Sujansky, E, Fennessey, P V, Thompson, J N

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Inclusion body myositis by Neville, Hans E., Ringel, Steven P., Sujansky, Eva, Baumbach, L. L., Russo, Louis P., Garcia, Carlos

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Pulmonary arteriovenous malformation in the newborn: a familial case by Allen, S W, Whitfield, J M, Clarke, D R, Sujansky, E, Wiggins, J W

“…Pulmonary arteriovenous malformation (PAVM) is a rare cause of cyanosis in the newborn with nine previously reported cases. Typical signs at presentation…”
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Molecular genetic testing of a fetus at risk of Gerstmann-Sträussler-Scheinker syndrome by Brown, P, Cervenáková, L, Goldfarb, L G, Gajdusek, D C, Haverkamp, A, Haverkamp, C, Horwitz, J, Creacy, S D, Bever, R A, Wexler, P

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563 ATYPICAL PRESENTATION OF TRISOMY 13 MOSAICISM by Slover, Robin, Sujansky, Eva, Robinson, Arthur

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859 HISPANIC RECOMBINANT 8 (REC 8) SYNDROME: SEGREGATION ANALYSIS by Smith, Ann C M, Spuhler, Karen, Sujansky, Eva, Jams, Thomas Will, McConnell, Thomas, Robinson, Arthur

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925 A NEW SYNDROME OF LETHAL MESOMELIC SKELETAL DYSPLASIA WITH OCULAR AND CARDIAC ABNORMALITIES by Sujansky, Eva, Slover, Robin, Wesenberg, Richard L, Rumack, Carol

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Clinicopathologic and dysmorphic findings in recombinant chromosome 8 syndrome by Williams, T M, McConnell, T S, Martinez, Jr, F, Smith, A C, Sujansky, E

“…Clinical records, autopsy reports, and microscopic slides from 11 infants with the recombinant 8 syndrome, an inherited abnormality of chromosome 8 affecting…”
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Natural history of the recombinant (8) syndrome by Sujansky, E, Smith, A C, Prescott, K E, Freehauf, C L, Clericuzio, C, Robinson, A

“…The recombinant 8[Rec(8)] syndrome [rec(8), (8qter-->8q22.1::8p23.1-->8qter] is due to a parental inv(8)(8pter-->8p23.1::8q22.1-->8p23.1::8q22+ ++.1-->8qter)…”
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San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: a review of chromosome 8 anomalies and congenital heart disease by Gelb, B D, Towbin, J A, McCabe, E R, Sujansky, E

“…Tetralogy of Fallot, the most common cyanotic heart defect, has not been closely associated with a specific chromosome defect. The San Luis Valley Recombinant…”
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