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64 results for Anus,+Imperforate+-+genetics

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ArticlesPeer ReviewedFull Text
Activating RNAs associate with Mediator to enhance chromatin architecture and transcription
Author / Creator:Lai, Fan ; Orom, Ulf A. ; Cesaroni, Matteo ; Beringer, Malte ; Taatjes, Dylan J. ; Blobel, Gerd A. ; Shiekhattar, Ramin
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2013-02, Vol.494 (7438), p.497-501
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ArticlesPeer ReviewedFull Text
VACTERL/VATER Association
Author / Creator:Solomon, Benjamin D
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2011-08, Vol.6 (1), p.56-56
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Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes–Brocks Syndrome
Author / Creator:Innoceta, Anna Maria ; Olivucci, Giulia ; Parmeggiani, Giulia ; Scarano, Emanuela ; Pragliola, Antonella ; Graziano, Claudio
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-01, Vol.14 (2), p.258
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Dysregulation of Wnt inhibitory factor 1 (Wif1) expression resulted in aberrant Wnt-β-catenin signaling and cell death of the cloaca endoderm, and anorectal malformations
Author / Creator:Ng, R C-L ; Matsumaru, D ; Ho, A S-H ; Garcia-Barceló, M-M ; Yuan, Z-W ; Smith, D ; Kodjabachian, L ; Tam, P K-H ; Yamada, G ; Lui, V C-H
Publisher:London: Nature Publishing Group UK
Journal title:Cell death and differentiation, 2014-06, Vol.21 (6), p.978-989
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Currarino syndrome with immature teratoma: A case report with review of literature
Author / Creator:Behera, Gayatri ; Manekar, Aaditya ; Mahallik, Santosh ; Sable, Mukund ; Das, Kanishka
Publisher:India: Wolters Kluwer - Medknow
Journal title:Journal of cancer research and therapeutics, 2024-04, Vol.20 (3), p.1088-1091
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A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome
Author / Creator:Chi, Yunqian ; Yao, Yi ; Sun, Futao ; Zhang, Wenhong ; Zhang, Zihan ; Wang, Yunhe ; Hao, Wei
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2024-06, Vol.50 (1), p.121-8, Article 121
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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss
Author / Creator:Yang, Guangxian ; Yin, Yi ; Tan, Zhiping ; Liu, Jian ; Deng, Xicheng ; Yang, Yifeng
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2021-01, Vol.14 (1), p.24-7, Article 24
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Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations
Author / Creator:Miyagawa, S ; Harada, M ; Matsumaru, D ; Tanaka, K ; Inoue, C ; Nakahara, C ; Haraguchi, R ; Matsushita, S ; Suzuki, K ; Nakagata, N ; Ng, R C-L ; Akita, K ; Lui, V C-H ; Yamada, G
Publisher:London: Nature Publishing Group UK
Journal title:Cell death and differentiation, 2014-06, Vol.21 (6), p.990-997
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Parental risk factors and anorectal malformations: systematic review and meta-analysis
Author / Creator:Zwink, Nadine ; Jenetzky, Ekkehart ; Brenner, Hermann
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2011-05, Vol.6 (1), p.25-25, Article 25
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De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association
Author / Creator:Hilger, Alina ; Schramm, Charlotte ; Pennimpede, Tracie ; Wittler, Lars ; Dworschak, Gabriel C ; Bartels, Enrika ; Engels, Hartmut ; Zink, Alexander M ; Degenhardt, Franziska ; Müller, Annette M ; Schmiedeke, Eberhard ; Grasshoff-Derr, Sabine ; Märzheuser, Stefanie ; Hosie, Stuart ; Holland-Cunz, Stefan ; Wijers, Charlotte HW ; Marcelis, Carlo LM ; van Rooij, Iris ALM ; Hildebrandt, Friedhelm ; Herrmann, Bernhard G ; Nöthen, Markus M ; Ludwig, Michael ; Reutter, Heiko ; Draaken, Markus
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-12, Vol.21 (12), p.1377-1382
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Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?
Author / Creator:Wessels, Marja W ; Kuchinka, Brian ; Heydanus, Rogier ; Smit, Bert J ; Dooijes, Dennis ; de Krijger, Ronald R ; Lequin, Maarten H ; de Jong, Elisabeth M ; Husen, Margreet ; Willems, Patrick J ; Casey, Brett
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2010-05, Vol.47 (5), p.351-355
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Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation
Author / Creator:Liberalesso, Paulo Breno Noronha ; Cordeiro, Mara L. ; Karuta, Simone Carreiro Vieira ; Koladicz, Karyn Regina Jordão ; Nitsche, Anderson ; Zeigelboim, Bianca Simone ; Raskin, Salmo ; Rauchman, Michael
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2017-11, Vol.18 (1), p.125-125, Article 125
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Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases
Author / Creator:Mallmann, Michael Rudolf ; Reutter, Heiko ; Müller, Annette Margarete ; Geipel, Annegret ; Berg, Christoph ; Gembruch, Ulrich
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Fetal diagnosis and therapy, 2017-02, Vol.41 (1), p.66-70
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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1
Author / Creator:Slavotinek, Anne M ; Baranzini, Sergio E ; Schanze, Denny ; Labelle-Dumais, Cassandre ; Short, Kieran M ; Chao, Ryan ; Yahyavi, Mani ; Bijlsma, Emilia K ; Chu, Catherine ; Musone, Stacey ; Wheatley, Ashleigh ; Kwok, Pui-Yan ; Marles, Sandra ; Fryns, Jean-Pierre ; Maga, A Murat ; Hassan, Mohamed G ; Gould, Douglas B ; Madireddy, Lohith ; Li, Chumei ; Cox, Timothy C ; Smyth, Ian ; Chudley, Albert E ; Zenker, Martin
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-06, Vol.48 (6), p.375-382
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Somatic Mosaicism in Esophageal Atresia
Author / Creator:Bednarczyk, Damian ; Makowska, Izabela ; Sasiadek, Maria Malgorzata ; Smigiel, Robert
Publisher:United States: Wolters Kluwer Health Medical Research, Lippincott Williams & Wilkins
Journal title:The American journal of gastroenterology, 2014-12, Vol.109 (12), p.1954-1956
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Gene Network Analysis of Candidate Loci for Human Anorectal Malformations
Author / Creator:Wong, Emily H. M. ; Ng, Chun-Laam ; Lui, Vincent Chi-Hang ; So, Man-ting ; Cherny, Stacey S. ; Sham, Pak-Chung ; Tam, Paul Kwong-Hang ; Garcia-Barceló, Maria-Mercè
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-08, Vol.8 (8), p.e69142-e69142
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Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias
Author / Creator:van de Putte, Romy ; Wijers, Charlotte H. W. ; de Blaauw, Ivo ; Feitz, Wout F. J. ; Marcelis, Carlo L. M. ; Hakobjan, Marina ; Sloots, Cornelius E. J. ; van Bever, Yolande ; Brunner, Han G. ; Roeleveld, Nel ; van Rooij, Iris A. L. M. ; van der Zanden, Loes F. M.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2015-05, Vol.174 (5), p.583-587
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Temporal and spatial expression of caudal-type homeobox gene-2 during hindgut development in rat embryos with ethylenethiourea-induced anorectal malformations
Author / Creator:Tang, Xiao Bing ; Zhang, Tao ; Wang, Wei Lin ; Yuan, Zheng Wei ; Bai, Yu Zuo
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Cell and tissue research, 2014-07, Vol.357 (1), p.83-90
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Fetus with Casamassima-Morton-Nance Syndrome and Limb–Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype
Author / Creator:Salinas-Torres, Victor M.
Publisher:Los Angeles, CA: SAGE Publications
Journal title:Pediatric and developmental pathology, 2016-03, Vol.19 (2), p.159-164
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Molecular and Cytogenetic Evaluation of a Patient with Ring Chromosome 13 and Discordant Results
Author / Creator:Kaylor, Julie ; Alfaro, Maria ; Ishwar, Arjun ; Sailey, Charles ; Sawyer, Jeffrey ; Zarate, Yuri A.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cytogenetic and genome research, 2014-01, Vol.144 (2), p.104-108
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Showing 1 to 20 of 64 results

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Activating RNAs associate with Mediator to enhance chromatin architecture and transcription

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VACTERL/VATER Association

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Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes–Brocks Syndrome

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Dysregulation of Wnt inhibitory factor 1 (Wif1) expression resulted in aberrant Wnt-β-catenin signaling and cell death of the cloaca endoderm, and anorectal malformations

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Currarino syndrome with immature teratoma: A case report with review of literature

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A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss

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Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations

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Parental risk factors and anorectal malformations: systematic review and meta-analysis

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De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

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Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?

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Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation

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Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases

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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

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Somatic Mosaicism in Esophageal Atresia

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Gene Network Analysis of Candidate Loci for Human Anorectal Malformations

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Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias

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Temporal and spatial expression of caudal-type homeobox gene-2 during hindgut development in rat embryos with ethylenethiourea-induced anorectal malformations

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Fetus with Casamassima-Morton-Nance Syndrome and Limb–Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype

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Molecular and Cytogenetic Evaluation of a Patient with Ring Chromosome 13 and Discordant Results

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