Search Results - "HERSH, J. H"

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2 by Ballif, BC, Theisen, A, McDonald-McGinn, DM, Zackai, EH, Hersh, JH, Bejjani, BA, Shaffer, LG

“…We report the identification of microdeletions of 16q11.2q12.2 by microarray‐based comparative genomic hybridization (aCGH) in two individuals. The clinical…”
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20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder by Williams, P.G., Wetherbee, J.J., Rosenfeld, J.A., Hersh, J.H.

“…Deletions of 20p are rare with the majority of reported cases involving individuals with 20p12 deletions associated with Alagille syndrome. We report on a…”
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Fetal valproate syndrome and autism: additional evidence of an association by Williams, Gail, King, John, Cunningham, Michael, Stephan, Mark, Kerr, Bronwyn, Hersh, Joseph H

“…Autism has been described in association with a variety of medical and genetic conditions. We previously reported on a patient whose clinical phenotype was…”
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Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance by Powis, Z., Farwell Hagman, K.D., Mroske, C., McWalter, K., Cohen, J.S., Colombo, R., Serretti, A., Fatemi, A., David, K.L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C.M., Payne, K., Barbaro‐Dieber, T., Gripp, K.W., Baker, L., Stamper, T., Aleck, K.A., Jordan, E.S., Hersh, J.H., Burton, J., Wentzensen, I.M., Guillen Sacoto, M.J., Willaert, R., Cho, M.T., Petrik, I., Huether, R., Tang, S.

“…Diagnostic exome sequencing (DES) has aided delineation of the phenotypic spectrum of rare genetic etiologies of intellectual disability (ID). A SET domain…”
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Brief Report: The Association of Neurofibromatosis Type 1 and Autism by Williams, P. Gail, Hersh, Joseph H

“…A study reviewed neurodevelopment evaluations of 74 patients with Neurofibromatosis Type 1 (NF1) to determine if an association between NF1 and autism exists…”
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Toluene embryopathy: two new cases by Hersh, J H

“…Toluene embryopathy is characterised by microcephaly, central nervous system dysfunction, attentional deficits and hyperactivity, developmental delay with…”
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Risk of malignancy in Sotos syndrome by Hersh, J H, Cole, T R, Bloom, A S, Bertolone, S J, Hughes, H E

“…A questionnaire survey identified a possibly increased risk of malignancy for patients with Sotos syndrome. Because the sites and types of neoplasm found in…”
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Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association by Angle, Brad, Hersh, Joseph H, Christensen, Katherine M

“…We report on a case of cloverleaf skull deformity in a patient with hypochondroplasia, a disorder which has not been previously associated with this anomaly…”
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A clinical and molecular study of mosaicism for trisomy 17 by SHAFFER, L. G, MCCASKILL, C, HERSH, J. H, GREENBERG, F, LUPSKI, J. R

“…Trisomy 17 has never been reported in a live birth. We present a case of mosaic trisomy 17 in a male presenting with mental retardation, seizures, attention…”
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Toluene embryopathy by Hersh, J H, Podruch, P E, Rogers, G, Weisskopf, B

“…Three children with microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency were born to women…”
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A male with fetal valproate syndrome and autism by Williams, P Gail, Hersh, Joseph H.

“…Fetal valproate syndrome (FVS) is characterized by minor craniofacial anomalies, major organ malformations, and developmental delay. We report on a patient who…”
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Case of partial duplication 2q3 with characteristic phenotype: Rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion by Angle, Brad, Hersh, Joseph H., Yen, Frank, Christensen, Katherine M.

“…We report on a male infant with partial trisomy 2q (q34→qter) resulting from a maternal pericentric inversion of chromosome 2 (p25.2q34). The infant had…”
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Investigation of Illness Associated with Exposure to Hydrogen Sulfide Among Pennsylvania School Students by Logue, James N., Ramaswamy, Krishnan, Hersh, Joel H.

“…During 1998, the Pennsylvania Department of Health received complaints about hydrogen sulfide odors believed to be associated with mushroom-composting…”
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De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene by Hersh, J H, Yen, F F, Peiper, S C, Barch, M J, Yacoub, O A, Voss, D H, Roberts, J L

“…A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent…”
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Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality by Williams, Patricia Gail, Hersh, Joseph H., Yen, Frank F., Barch, Margaret J., Kleinert, Harold E., Kunz, J., Kalff‐Suske, M.

“…A male had several features of Greig cephalopolysyndactyly syndrome (GCPS) and significant developmental delay. He was found to have a de novo chromosomal…”
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Predictive value of fetal ultrasonography in the diagnosis of a lethal skeletal dysplasia by HERSH, J. H, ANGLE, B, PIETRANTONI, M, COOK, V. D, SPINNATO, J. A, CLARK, A. L, KURTZMAN, J. T, BENDON, R. W, GERASSIMIDES, A

“…Certain ultrasonographic findings identified in a fetus suspected of having a skeletal dysplasia may be predictive of a lethal outcome. We evaluated 27 fetuses…”
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Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity by FRANCKE, U, DARRAS, B. T, HERSH, J. H, BERG, B. O, MILLER, R. G

“…An autosomal recessive (AR) form of muscular dystrophy that clinically resembles Duchenne/Becker types exists, but its frequency is unknown. We have studied…”
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Natal teeth in Monozygotic twins with van der woude syndrome by HERSH, J. H, VERDI, G. D

“…The second monozygotic twin pair concordant for Van der Woude syndrome is reported. Clinical manifestations of this autosomal dominant clefting syndrome…”
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Michel's anomaly, type I microtia and microdontia by Hersh, J H, Ganzel, T M, Fellows, R A

“…Michel's anomaly is an extremely rare cause of congenital sensorineural hearing loss. We present a 2-1/2 year old white female with this inner ear defect…”
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The surgical management of the upper extremity anomalies associated with Du Pan syndrome by Lees, V C, Hersh, J H, Scheker, L R

“…Du Pan syndrome is a rare condition comprising complex brachydactyly with fibular hypoplasia that is inherited in an autosomal recessive manner. This article…”
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