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1p36 deletion syndrome: an update.
Published in:
Application of Clinical Genetics, 2015, v. 8, p. 189, doi. 10.2147/TACG.S65698
By:
- Jordan, Valerie K.;
- Zaveri, Hitisha P.;
- Scott, Daryl A.
Publication type:
Article
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1785, doi. 10.1002/ajmg.a.35391
By:
- Hernández-García, Andrés;
- Brosens, Erwin;
- Zaveri, Hitisha P.;
- de Jong, Elisabeth M.;
- Yu, Zhiyin;
- Namwanje, Maria;
- Mayle, Allison;
- Fernandes, Caraciolo J.;
- Lee, Brendan;
- Blazo, Maria;
- Lalani, Seema R.;
- Tibboel, Dick;
- de Klein, Annelies;
- Scott, Daryl A.
Publication type:
Article
Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36.
Published in:
PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085600
By:
- Zaveri, Hitisha P.;
- Beck, Tyler F.;
- Hernández-García, Andrés;
- Shelly, Katharine E.;
- Montgomery, Tara;
- van Haeringen, Arie;
- Anderlid, Britt-Marie;
- Patel, Chirag;
- Goel, Himanshu;
- Houge, Gunnar;
- Morrow, Bernice E.;
- Cheung, Sau Wai;
- Lalani, Seema R.;
- Scott, Daryl A.
Publication type:
Article
Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3.
Published in:
PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058830
By:
- Beck, Tyler F.;
- Shchelochkov, Oleg A.;
- Yu, Zhiyin;
- Kim, Bum Jun;
- Hernández-García, Andrés;
- Zaveri, Hitisha P.;
- Bishop, Colin;
- Overbeek, Paul A.;
- Stockton, David W.;
- Justice, Monica J.;
- Scott, Daryl A.
Publication type:
Article
An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions.
Published in:
PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057460
By:
- Kim, Bum Jun;
- Zaveri, Hitisha P.;
- Shchelochkov, Oleg A.;
- Yu, Zhiyin;
- Hernández-García, Andrés;
- Seymour, Michelle L.;
- Oghalai, John S.;
- Pereira, Fred A.;
- Stockton, David W.;
- Justice, Monica J.;
- Lee, Brendan;
- Scott, Daryl A.
Publication type:
Article
SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 13, p. 2152, doi. 10.1093/hmg/ddad050
By:
- Hernández-García, Andrés;
- Pendleton, Katherine E;
- Kim, Sangbae;
- Li, Yumei;
- Kim, Bum J;
- Zaveri, Hitisha P;
- Jordan, Valerie K;
- Berry, Aliska M;
- Ljungberg, M Cecilia;
- Chen, Rui;
- Lanz, Rainer B;
- Scott, Daryl A
Publication type:
Article
RERE deficiency contributes to the development of orofacial clefts in humans and mice.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 7, p. 595, doi. 10.1093/hmg/ddab084
By:
- Kim, Bum Jun;
- Zaveri, Hitisha P;
- Kundert, Peter N;
- Jordan, Valerie K;
- Scott, Tiana M;
- Carmichael, Jenny;
- Scott, Daryl A
Publication type:
Article
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 5, p. 1026, doi. 10.1093/hmg/dds507
By:
- Beck, Tyler F.;
- Veenma, Danielle;
- Shchelochkov, Oleg A.;
- Yu, Zhiyin;
- Kim, Bum Jun;
- Zaveri, Hitisha P.;
- van Bever, Yolande;
- Choi, Sunju;
- Douben, Hannie;
- Bertin, Terry K.;
- Patel, Pragna I.;
- Lee, Brendan;
- Tibboel, Dick;
- de Klein, Annelies;
- Stockton, David W.;
- Justice, Monica J.;
- Scott, Daryl A.
Publication type:
Article
Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1729, doi. 10.1002/ajmg.a.34041
By:
- Richards, Elliott G.;
- Zaveri, Hitisha P.;
- Wolf, Varina L.;
- Kang, Sung-Hae Lee;
- Scott, Daryl A.
Publication type:
Article
1p36 deletion syndrome: an update.
Published in:
Therapeutics & Clinical Risk Management, 2015, v. 11, p. 189, doi. 10.2147/TACG.S65698
By:
- Jordan, Valerie K.;
- Zaveri, Hitisha P.;
- Scott, Daryl A.
Publication type:
Article

Found: 10

1p36 deletion syndrome: an update.

Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.

Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36.

Novel <i>Frem1</i>-Related Mouse Phenotypes and Evidence of Genetic Interactions with <i>Gata4</i> and <i>Slit3</i>.

An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions.

SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2.

RERE deficiency contributes to the development of orofacial clefts in humans and mice.

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22.

1p36 deletion syndrome: an update.