Camacho, Natalia, Luong, Phi, Deixler, Hannah, Funari, Tara L, ...
The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the ver-tebrae and the metaphyses of the tubular bones. SMD Kozlowski type (SMDK) is...
Carvalho, Claudia M.B., Zhang, Feng, Liu, Pengfei, Patel, Ankita, Sahoo, Trilochan, Bacino, Carlos A., ...
Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males. Such duplications are non-recurrent and can be...
Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation (2008)
Brunetti-Pierri, Nicola, Del Gaudio, Daniela, Peters, Hartmut, Justino, Henri, Ott, Claus-Eric, Mundlos, Stefan, ...
Robinow syndrome comprises dysmorphic facial features, short stature, brachymesomelia, segmental spine defects, and genital hypoplasia. The range of severity in this disorder is broad. We report on...
SNP genotyping to screen for a common deletion in CHARGE Syndrome (2005)
Lalani, Seema R, Safiullah, Arsalan M, Fernbach, Susan D, Phillips, Michael, Bacino, Carlos A, Molinari, Laura M, ...
Abstract Background CHARGE syndrome is a complex of birth defects including coloboma, choanal atresia, ear malformations and deafness, cardiac defects, and growth delay. We have previously...
A case of familial isolated hemihyperplasia (2004)
Heilstedt, Heidi A, Bacino, Carlos A
Abstract Background Hemihyperplasia (hemihypertrophy) is defined as asymmetric body overgrowth of one or more body parts. Hemihyperplasia can be isolated or be part of well-defined syndromes such as...
SNP genotyping to screen for a common deletion in CHARGE Syndrome
Lalani, Seema R, Safiullah, Arsalan M, Fernbach, Susan D, Phillips, Michael, Bacino, Carlos A, Molinari, Laura M, ...
Terminal Osseous Dysplasia with Pigmentary Defects Maps to Human Chromosome Xq27.3-Xqter
Zhang, Wenzheng, Amir, Ruthie, Stockton, David W., Van den Veyver, Ignatia B., Bacino, Carlos A., Zoghbi, Huda Y.
We have identified a four-generation family with 10 affected females manifesting one or more of the following features: osseous dysplasia involving the metacarpals, metatarsals, and phalanges leading...
Lalani, Seema R., Safiullah, Arsalan M., Fernbach, Susan D., Harutyunyan, Karine G., Thaller, Christina, Peterson, Leif E., ...
CHARGE syndrome is a well-established multiple-malformation syndrome with distinctive consensus diagnostic criteria. Characteristic associated anomalies include ocular coloboma, choanal atresia,...
SNP genotyping to screen for a common deletion in CHARGE Syndrome
Lalani, Seema R, Safiullah, Arsalan M, Fernbach, Susan D, Phillips, Michael, Bacino, Carlos A, Molinari, Laura M, ...
Heilstedt, Heidi A., Ballif, Blake C., Howard, Leslie A., Lewis, Richard A., Stal, Samuel, Kashork, Catherine D., ...
Monosomy 1p36 is the most common terminal deletion syndrome. This contiguous gene deletion syndrome is presumably caused by haploinsufficiency of a number of genes. We have constructed a contig of...
Roelfsema, Jeroen H., White, Stefan J., Ariyürek, Yavuz, Bartholdi, Deborah, Niedrist, Dunja, Papadia, Francesco, ...
CREB-binding protein and p300 function as transcriptional coactivators in the regulation of gene expression through various signal-transduction pathways. Both are potent histone acetyl transferases....
Terminal Osseous Dysplasia with Pigmentary Defects Maps to Human Chromosome Xq27.3-Xqter
Zhang, Wenzheng, Amir, Ruthie, Stockton, David W., Van den Veyver, Ignatia B., Bacino, Carlos A., Zoghbi, Huda Y.
We have identified a four-generation family with 10 affected females manifesting one or more of the following features: osseous dysplasia involving the metacarpals, metatarsals, and phalanges leading...
Lalani, Seema R., Safiullah, Arsalan M., Fernbach, Susan D., Harutyunyan, Karine G., Thaller, Christina, Peterson, Leif E., ...
CHARGE syndrome is a well-established multiple-malformation syndrome with distinctive consensus diagnostic criteria. Characteristic associated anomalies include ocular coloboma, choanal atresia,...
Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases
Lu, Xinyan, Shaw, Chad A., Patel, Ankita, Li, Jiangzhen, Cooper, M. Lance, Wells, William R., ...
Krakow, Deborah, Vriens, Joris, Camacho, Natalia, Luong, Phi, Deixler, Hannah, Funari, Tara L., ...
The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMD Kozlowski type (SMDK) is...