Search Results - "Pober, B.R."

Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia by Longoni, M., Russell, M.K., High, F.A., Darvishi, K., Maalouf, F.I., Kashani, A., Tracy, A.A., Coletti, C.M., Loscertales, M., Lage, K., Ackerman, K.G., Woods, S.A., Ward-Melver, C., Andrews, D., Lee, C., Pober, B.R., Donahoe, P.K.

“…Zinc finger protein, FOG2 family member 2 (ZFPM2) (previously named FOG2) gene defects result in the highly morbid congenital diaphragmatic hernia (CDH) in…”
Get full text

Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai‐Barrow syndrome by Anglani, F., Terrin, L., Brugnara, M., Battista, M., Cantaluppi, V., Ceol, M., Bertoldi, L., Valle, G., Joy, M.P., Pober, B.R., Longoni, M.

“…Whole exome sequencing detected novel likely pathogenic variants in LRP2 gene in 2 patients presenting with hearing and vision loss, and the Dent disease (DD)…”
Get full text

Description of common musculoskeletal findings in Williams Syndrome and implications for therapies by Copes, L.E., Pober, B.R., Terilli, C. A.

“…Williams syndrome (WS), also referred to as Williams‐Beuren syndrome (WBS), is a relatively rare genetic disorder affecting ∼1/10,000 persons. Since the…”
Get full text

High prevalence of diabetes and pre-diabetes in adults with Williams syndrome by Pober, B.R., Wang, E., Caprio, S., Petersen, K.F., Brandt, C., Stanley, T., Osborne, L.R., Dzuria, J., Gulanski, B.

“…A standard oral glucose tolerance test (OGTT) was administered to 28 adults with Williams syndrome (WS). Three quarters of the WS subjects showed abnormal…”
Get full text

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome by Kantarci, S., Casavant, D., Prada, C., Russell, M., Byrne, J., Haug, L. Wilkins, Jennings, R., Manning, S., Boyd, T.K., Fryns, J.P., Holmes, L.B., Donahoe, P.K., Lee, C., Kimonis, V., Pober, B.R.

“…Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect that can occur in isolation or as part of a malformation complex…”
Get full text

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome (Am J Med Genet 140A:17-23, 2006) by Kantarci, S., Casavant, D., Prada, C., Russell, M., Byrne, J., Wilkins Haug, L., Jennings, R., Manning, S., Boyd, T.K., Fryns, J.P., Holmes, L.B., Donahoe, P.K., Lee, C., Kimonis, V., Pober, B.R.

Get full text

Complexities of intraventricular abnormalities by Pober, B R, Greene, M F, Holmes, L B

“…We identified 59 fetuses and infants with intracranial anomalies over 5 1/2 years. The cases represented heterogeneous diagnostic groups: hydrocephalus with a…”
Get more information

Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review by Boles, R G, Pober, B R, Gibson, L H, Willis, C R, McGrath, J, Roberts, D J, Yang-Feng, T L

“…We describe a newborn boy with multiple anomalies, including bilateral split foot and an interstitial deletion of chromosome 2 (q24.2-q31.1). Four additional…”
Get more information