Search Results - "Fryburg, J S"

Oral phenylalanine loading in dopa-responsive dystonia : A possible diagnostic test by HYLAND, K, FRYBURG, J. S, WILSON, W. G, BEBIN, E. M, ARNOLD, L. A, GUNASEKERA, R. S, JACOBSON, R. D, ROST-RUFFNER, E, TRUGMAN, J. M

“…To determine if there is abnormal phenylalanine and biopterin metabolism in patients with dopa-responsive dystonia (DRD), we measured plasma levels of…”
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Analysis of phenotypic features and FGFR2 mutations in apert syndrome by WOO-JIN PARK, THEDA, C, MAESTRI, N. E, MEYERS, G. A, FRYBURG, J. S, DUFRESNE, C, COHEN, M. M. C. JR, JABS, E. W

“…A phenotypic and genotypic survey was conducted on 36 Apert syndrome patients. In all but one patient, an FGFR2 mutation, either S252W or P253R, was found in…”
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Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations by Furukawa, Y, Kish, S J, Bebin, E M, Jacobson, R D, Fryburg, J S, Wilson, W G, Shimadzu, M, Hyland, K, Trugman, J M

“…Mutations in the GTP-cyclohydrolase I (GCH) gene have been identified as a cause of two disorders: autosomal dominant hereditary progressive…”
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Vascular ring leading to tracheoesophageal compression in a patient with Rubinstein-Taybi syndrome by Shashi, V, Fryburg, J S

“…Mediastinal vascular rings cause tracheoesophageal obstruction, resulting in respiratory symptoms and dysphagia in children. Although a large number of…”
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Allelic loss on chromosome 11 in hereditary and sporadic tumors related to familial multiple endocrine neoplasia type 1 by BALE, A. E, NORTON, J. A, SPIEGEL, A. M, TAGGART, R. T, MARX, S. J, WONG, E. L, FRYBURG, J. S, MATON, P. N, OLDFIELD, E. H, STREETEN, E, AURBACH, G. D, BRANDI, M. L, FRIEDMAN, E

“…Familial multiple endocrine neoplasia type 1 (FMEN1) is an autosomal dominant disorder characterized by tumors of the parathyroid glands, pancreatic islets,…”
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Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases by Shashi, V, Zunich, J, Kelly, T E, Fryburg, J S

“…A new neuroectodermal syndrome (designated CHIME syndrome) was described in 1983 with a total of four patients reported, it is presumed to be an autosomal…”
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Long-term follow-up of cutaneous changes in siblings with mandibuloacral dysplasia who were originally considered to have hereditary sclerosing poikiloderma by Fryburg, Julie S, Sidhu-Malik, Navjeet

“…Mandibuloacral dysplasia is a rare syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated,…”
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Postnatal placental confirmation of trisomy 2 and trisomy 16 detected at chorionic villus sampling: a possible association with intrauterine growth retardation and elevated maternal serum alpha-fetoprotein by Fryburg, J S, Dimaio, M S, Mahoney, M J

“…Detection of trisomy 2 and trisomy 16 mosaicism through chorionic villus sampling (CVS) is not an infrequent finding. We describe here two cases, one of…”
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Epidermal naevi and bullous aplasia cutis congenita in a neonate by Fryburg, J S, Greer, K E

“…The case of a neonate with cutaneous lesions consistent with epidermal naevi is presented. In addition to typical epidermal naevi, this baby had an unusual,…”
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Familial Synspondylism: Progressive Scoliosis and Multiple Hernias in a Kinship by Mullins, Danny A, Abel, Mark F, Blanco, John S, Fryburg, Julie S

“…A new genetic syndrome is reported of congenital lordoscoliosis due to lumbar segmentation defects and incomplete formation of lumbar vertebrae. The defect…”
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Mosaicism in chorionic villus sampling by Fryburg, J S

“…Although chromosomal mosaicism is encountered frequently in CVS, it is most often restricted to the extraembryonic tissues. Counseling before CVS should…”
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Recurrent lambdoid synostosis within two families by Fryburg, J S, Hwang, V, Lin, K Y

“…We report on 2 families with multiple members who have proven or suspected lambdoid craniosynostosis. In one family the lambdoid suture was unilaterally…”
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Interstitial deletion of 8q13.3-->22.1 associated with craniosynostosis by Fryburg, J S, Golden, W L

“…We report on a 3-year-old girl who has an interstitial deletion of chromosome 8q [46,XX,del(8)(q13.3q22.1)]. She has severe mental retardation and minor…”
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Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome by Fryburg, J S, Pelegano, J P, Bennett, M J, Bebin, E M

“…Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant condition of macrocephaly in combination with lipomas/hemangiomas, hypotonia, developmental…”
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Choanal atresia in a patient with the deletion (9p) syndrome by Shashi, V, Golden, W L, Fryburg, J S

“…We report on a child with choanal atresia and deletion 9p. A review of the literature documented one previous instance of choanal atresia in a patient with…”
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Frontonasal dysplasia in two successive generations by Fryburg, J S, Persing, J A, Lin, K Y

“…Frontonasal dysplasia is thought to be a sporadic condition limited to the face and head. We describe a family from the Bahamas in which a mother, 2 of her…”
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Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome by Fryburg, Julie S., Lin, Kant Y., Golden, Wendy L.

“…This report is on a 14‐month‐old boy with manifestations of Opitz (G/BBB) syndrome in whom a 22q11.2 deletion was found. Deletion analysis was requested…”
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Chondrodysplasia punctata, humero-metacarpal type: A second case by Fryburg, Julie S., Kelly, Thaddeus E.

“…We report on a boy with symmetrical rhizomelic shortness of the upper limbs and punctate epiphyseal calcifications noted at birth. Radiographs documented short…”
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Novel isodicentric chromosome 18 in an abnormal infant with a mosaic karyotype [46,XY/46,XY,-18,+dic(18)(q12.2]) by Bryke, C R, Lindgren, V, Fryburg, J S, Yang-Feng, T L

“…A previously unreported isodicentric chromosome 18 was discovered in an abnormal infant boy whose mosaic karyotype was 46,XY/46,XY,-18,+idic(18)(q12.2). His…”
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Abnormal head MRI in a neurologically normal boy with hypomelanosis of Ito by Fryburg, Julie S., Lin, Kant Y., Matsumoto, Julie

“…We report on an 8.5‐year‐old boy with hypomelanosis of Ito (HI) who has an abnormal MRI of the brain but is neurologically normal. There have been many reports…”
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