Tbx1and Brn4regulate retinoic acid metabolic genes during cochlear morphogenesis (2009)
Braunstein, Evan M, Monks, Dennis C, Aggarwal, Vimla S, Arnold, Jelena S, Morrow, Bernice E
Abstract Background In vertebrates, the inner ear is comprised of the cochlea and vestibular system, which develop from the otic vesicle. This process is regulated via inductive interactions from...
Babcock, Melanie, Yatsenko, Svetlana, Hopkins, Janet, Brenton, Matthew, Cao, Qing, De Jong, Pieter, ...
Segmental duplications or low-copy repeats (LCRs) constitute ∼5% of the sequenced portion of the human genome and are associated with many human congenital anomaly disorders. The low-copy repeats...
Babcock, Melanie, Yatsenko, Svetlana, Stankiewicz, Pawel, Lupski, James R., Morrow, Bernice E.
Low copy repeats (LCRs; segmental duplications) constitute ∼5% of the sequenced human genome. Nonallelic homologous recombination events between LCRs during meiosis can lead to chromosomal...
Role of TBX1, the 22Q11 deletion syndrome candidate gene, in mouse development / (2006)
Arnold, Jelena Sterio, Morrow, Bernice E.
Advisor: Bernice E. Morrow.
Organization and evolution of low copy repeats (LCR) on chromosome 22q11 / (2006)
Babcock, Melanie., Morrow, Bernice E.
Advisor: Bernice E. Morrow.
Dosage-dependent role of TBX1 in 22Q11 deletion syndrome mouse models / (2006)
Liao, Jun., Morrow, Bernice E.
Advisor: Bernice E. Morrow.
Aggarwal, Vimla S., Liao, Jun, Bondarev, Alexei, Schimmang, Thomas, Lewandoski, Mark, Locker, Joseph, ...
The 22q11 deletion syndrome (22q11DS) is characterized by abnormal development of the pharyngeal apparatus. Mouse genetic studies have identified Tbx1 as a key gene in the etiology of the syndrome,...
Arnold, Jelena S., Braunstein, Evan M., Ohyama, Takahiro, Groves, Andrew K., Adams, Joe C., Brown, M. Christian, ...
Most 22q11.2 deletion syndrome (22q11DS) patients have middle and outer ear anomalies while some have inner ear malformations. Tbx1, a gene hemizygously deleted in 22q11DS patients and required for...
Aggarwal, Vimla S., Liao, Jun, Bondarev, Alexei, Schimmang, Thomas, Lewandoski, Mark, Locker, Joseph, ...
The 22q11 deletion syndrome (22q11DS) is characterized by abnormal development of the pharyngeal apparatus. Mouse genetic studies have identified Tbx1 as a key gene in the etiology of the syndrome,...
Arnold, Jelena S., Braunstein, Evan M., Ohyama, Takahiro, Groves, Andrew K., Adams, Joe C., Brown, M. Christian, ...
Most 22q11.2 deletion syndrome (22q11DS) patients have middle and outer ear anomalies, whereas some have inner ear malformations. Tbx1, a gene hemizygously deleted in 22q11DS patients and required...
Pavlicek, Adam, House, Reniqua, Gentles, Andrew J., Jurka, Jerzy, Morrow, Bernice E.
Velo-cardio-facial syndrome/DiGeorge syndrome results from unequal crossing-over events between two 240-kb low-copy repeats termed LCR22 (LCR22-2 and LCR22-4) on Chromosome 22q11.2, comprised of...
Liao, Jun, Kochilas, Lazaros, Nowotschin, Sonja, Arnold, Jelena S., Aggarwal, Vimla S., Epstein, Jonathan A., ...
Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is associated with de novo hemizygous 22q11.2 deletions and is characterized by malformations attributed to abnormal development of the...
Liao, Jun, Kochilas, Lazaros, Nowotschin, Sonja, Arnold, Jelena S., Aggarwal, Vimla S., Epstein, Jonathan A., ...
Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is associated with de novo hemizygous 22q11.2 deletions and is characterized by malformations attributed to abnormal development of the...
Liao, Jun, Kochilas, Lazaros, Nowotschin, Sonja, Arnold, Jelena S., Aggarwal, Vimla S., Epstein, Jonathan A., ...
Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is associated with de novo hemizygous 22q11.2 deletions and is characterized by malformations attributed to abnormal development of the...
Spiteri, Elizabeth, Babcock, Melanie, Kashork, Catherine D., Wakui, Keiko, Gogineni, Swarna, Lewis, Debbie A., ...
The chromosome 22q11.2 region is susceptible to rearrangements, mediated by low copy repeats (LCR22s). Deletions and duplications are mediated by homologous recombination events between LCR22s. The...
Babcock, Melanie, Pavlicek, Adam, Spiteri, Elizabeth, Kashork, Catherine D., Ioshikhes, Ilya, Shaffer, Lisa G., ...
Low-copy repeats, or segmental duplications, are highly dynamic regions in the genome. The low-copy repeats on chromosome 22q11.2 (LCR22) are a complex mosaic of genes and pseudogenes formed by...
Mechanisms of germline translocations in chromosome 22Q11 / (2002)
Spiteri, Elizabeth., Morrow, Bernice E.
Advisor: Bernice E. Morrow.
Funke, Birgit, Epstein, Jonathan A., Kochilas, Lazaros K., Lu, Min Min, Pandita, Raj K., Liao, Jun, ...
Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is a congenital anomaly disorder associated with hemizygous 22q11 deletions. We previously showed that bacterial artificial chromosome...
Edelmann, Lisa, Stankiewicz, Pavel, Spiteri, Elizabeth, Pandita, Raj K., Shaffer, Lisa, Lupski, James, ...
Edelmann, Lisa, Stankiewicz, Pavel, Spiteri, Elizabeth, Pandita, Raj K., Shaffer, Lisa, Lupski, James, ...
Edelmann, Lisa, Stankiewicz, Pavel, Spiteri, Elizabeth, Pandita, Raj K., Shaffer, Lisa, Lupski, James, ...
A common molecular basis for rearrangement disorders on chromosome 22q11 (1999)
Edelmann, Lisa, Pandita, Raj K., Spiteri, Elizabeth, Funke, Birgit, Goldberg, Rosalie, Palanisamy, Nallasivam, ...
The chromosome 22q11 region is susceptible to rearrangements that are associated with congenital anomaly disorders and malignant tumors. Three congenital anomaly disorders, cat-eye syndrome, der(22)...
Edelmann, Lisa, Stankiewicz, Pavel, Spiteri, Elizabeth, Pandita, Raj K., Shaffer, Lisa, Lupski, James, ...
The DGCR6 (DiGeorge critical region) gene encodes a putative protein with sequence similarity to gonadal (gdl), a Drosophila melanogaster gene of unknown function. We mapped the DGCR6 gene to...
Babcock, Melanie, Pavlicek, Adam, Spiteri, Elizabeth, Kashork, Catherine D., Ioshikhes, Ilya, Shaffer, Lisa G., ...
Low-copy repeats, or segmental duplications, are highly dynamic regions in the genome. The low-copy repeats on chromosome 22q11.2 (LCR22) are a complex mosaic of genes and pseudogenes formed by...
Pavlicek, Adam, House, Reniqua, Gentles, Andrew J., Jurka, Jerzy, Morrow, Bernice E.
Velo-cardio-facial syndrome/DiGeorge syndrome results from unequal crossing-over events between two 240-kb low-copy repeats termed LCR22 (LCR22-2 and LCR22-4) on Chromosome 22q11.2, comprised of...
Edelmann, Lisa, Stankiewicz, Pavel, Spiteri, Elizabeth, Pandita, Raj K., Shaffer, Lisa, Lupski, James, ...
The DGCR6 (DiGeorge critical region) gene encodes a putative protein with sequence similarity to gonadal (gdl), a Drosophila melanogaster gene of unknown function. We mapped the DGCR6 gene to...
Babcock, Melanie, Pavlicek, Adam, Spiteri, Elizabeth, Kashork, Catherine D., Ioshikhes, Ilya, Shaffer, Lisa G., ...
Low-copy repeats, or segmental duplications, are highly dynamic regions in the genome. The low-copy repeats on chromosome 22q11.2 (LCR22) are a complex mosaic of genes and pseudogenes formed by...
McDermid, Heather E., Morrow, Bernice E.
The 22q11 region is involved in chromosomal rearrangements that lead to altered gene dosage, resulting in genomic disorders that are characterized by mental retardation and/or congenital...
Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome
Yobb, Twila M., Somerville, Martin J., Willatt, Lionel, Firth, Helen V., Harrison, Karen, MacKenzie, Jennifer, ...
22q11.2 microduplications of a 3-Mb region surrounded by low-copy repeats should be, theoretically, as frequent as the deletions of this region; however, few microduplications have been reported. We...
Pavlicek, Adam, House, Reniqua, Gentles, Andrew J., Jurka, Jerzy, Morrow, Bernice E.
Velo-cardio-facial syndrome/DiGeorge syndrome results from unequal crossing-over events between two 240-kb low-copy repeats termed LCR22 (LCR22-2 and LCR22-4) on Chromosome 22q11.2, comprised of...
Babcock, Melanie, Yatsenko, Svetlana, Stankiewicz, Pawel, Lupski, James R., Morrow, Bernice E.
Low copy repeats (LCRs; segmental duplications) constitute ∼5% of the sequenced human genome. Nonallelic homologous recombination events between LCRs during meiosis can lead to chromosomal...
Cooperative Function of Tbx1 and Brn4 in the Periotic Mesenchyme is Necessary for Cochlea Formation
Braunstein, Evan M., Crenshaw III, E. Bryan, Morrow, Bernice E., Adams, Joe C.
The T-box transcription factor TBX1 has been identified as the major gene responsible for the etiology of velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS). Conductive hearing loss occurs in a...