Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Involvement of the HLXB9 homeobox gene in Currarino syndrome.

Literature DB >> 10631160

Involvement of the HLXB9 homeobox gene in Currarino syndrome.

E Belloni, G Martucciello, D Verderio, E Ponti, M Seri, V Jasonni, M Torre, M Ferrari, L C Tsui, S W Scherer.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2000 PMID： 10631160 PMCID： PMC1288336 DOI： 10.1086/302723

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

× No keyword cloud information.

18 in total

1. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.

Authors: F R Goodman; S Mundlos; Y Muragaki; D Donnai; M L Giovannucci-Uzielli; E Lapi; F Majewski; J McGaughran; C McKeown; W Reardon; J Upton; R M Winter; B R Olsen; P J Scambler
Journal: Proc Natl Acad Sci U S A Date: 1997-07-08 Impact factor: 11.205

2. Multidisciplinary management of caudal regression syndrome (26 cases).

Authors: A Cama; A Palmieri; V Capra; G L Piatelli; M Ravegnani; P Fondelli
Journal: Eur J Pediatr Surg Date: 1996-12 Impact factor: 2.191

3. Double-gradient DGGE for optimized detection of DNA point mutations.

Authors: L Cremonesi; S Firpo; M Ferrari; P G Righetti; C Gelfi
Journal: Biotechniques Date: 1997-02 Impact factor: 1.993

4. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.

Authors: S Mundlos; F Otto; C Mundlos; J B Mulliken; A S Aylsworth; S Albright; D Lindhout; W G Cole; W Henn; J H Knoll; M J Owen; R Mertelsmann; B U Zabel; B R Olsen
Journal: Cell Date: 1997-05-30 Impact factor: 41.582

5. Modification of enzymatically amplified DNA for the detection of point mutations.

Authors: A Haliassos; J C Chomel; L Tesson; M Baudis; J Kruh; J C Kaplan; A Kitzis
Journal: Nucleic Acids Res Date: 1989-05-11 Impact factor: 16.971

6. Caudal mesoderm pattern of anomalies: from renal agenesis to sirenomelia.

Authors: B Källén; J Winberg
Journal: Teratology Date: 1974-02

7. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

Authors: E Belloni; M Muenke; E Roessler; G Traverso; J Siegel-Bartelt; A Frumkin; H F Mitchell; H Donis-Keller; C Helms; A V Hing; H H Heng; B Koop; D Martindale; J M Rommens; L C Tsui; S W Scherer
Journal: Nat Genet Date: 1996-11 Impact factor: 38.330

8. A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.

Authors: S A Lynch; P M Bond; A J Copp; W O Kirwan; S Nour; R Balling; E Mariman; J Burn; T Strachan
Journal: Nat Genet Date: 1995-09 Impact factor: 38.330

Review 9. The genetics of anorectal malformations: a complex matter.

Authors: M Lerone; A Bolino; G Martucciello
Journal: Semin Pediatr Surg Date: 1997-11 Impact factor: 2.754

10. Anorectal malformations.

Authors: A Peña
Journal: Semin Pediatr Surg Date: 1995-02 Impact factor: 2.754

35 in total

1. Leiomyomatosis peritonealis disseminata in association with Currarino syndrome?

Authors: Carmine Nappi; Attilio Di Spiezio Sardo; Vincenzo Dario Mandato; Giuseppe Bifulco; Elisa Merello; Antonio Savanelli; Chiara Mignogna; Valeria Capra; Maurizio Guida
Journal: BMC Cancer Date: 2006-05-10 Impact factor: 4.430

2. Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome.

Authors: In-Suk Kim; Soo-Young Oh; Suk-Joo Choi; Jong-Hwa Kim; Kwan Hyun Park; Hyun-Kyung Park; Jong-Won Kim; Chang-Seok Ki
Journal: J Hum Genet Date: 2007-07-06 Impact factor: 3.172

Review 3. Anorectal malformation: the etiological factors.

Authors: Chen Wang; Long Li; Wei Cheng
Journal: Pediatr Surg Int Date: 2015-04-22 Impact factor: 1.827

4. HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.

Authors: Franziska Kause; Rong Zhang; Michael Ludwig; Eberhard Schmiedeke; Anke Rissmann; Holger Thiele; Janine Altmueller; Stefan Herms; Alina C Hilger; Friedhelm Hildebrandt; Heiko Reutter
Journal: Birth Defects Res Date: 2019-03-18 Impact factor: 2.344

5. Currarino syndrome: report of five consecutive patients.

Authors: Soner Duru; Hakan Karabagli; Erhan Turkoglu; Yusuf Erşahin
Journal: Childs Nerv Syst Date: 2013-09-08 Impact factor: 1.475

Review 6. Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review.

Authors: Edyta Szumera; Barbara Jasiewicz; Tomasz Potaczek
Journal: J Spinal Cord Med Date: 2017-09-06 Impact factor: 1.985

7. Anorectal malformations caused by defects in sonic hedgehog signaling.

Authors: R Mo; J H Kim; J Zhang; C Chiang; C C Hui; P C Kim
Journal: Am J Pathol Date: 2001-08 Impact factor: 4.307

8. Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.

Authors: Charlotte H W Wijers; Ivo de Blaauw; Carlo L M Marcelis; Rene M H Wijnen; Han Brunner; Paola Midrio; Piergiorgio Gamba; Maurizio Clementi; Ekkehart Jenetzky; Nadine Zwink; Heiko Reutter; Enrika Bartels; Sabine Grasshoff-Derr; Stefan Holland-Cunz; Stuart Hosie; Stefanie Märzheuser; Eberhard Schmiedeke; Célia Crétolle; Sabine Sarnacki; Marc A Levitt; Nine V A M Knoers; Nel Roeleveld; Iris A L M van Rooij
Journal: Pediatr Surg Int Date: 2010-11 Impact factor: 1.827

9. Comprehensive analysis of animal TALE homeobox genes: new conserved motifs and cases of accelerated evolution.

Authors: Krishanu Mukherjee; Thomas R Bürglin
Journal: J Mol Evol Date: 2007-07-30 Impact factor: 2.395

10. Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.

Authors: Piero Pavone; Martino Ruggieri; Ilaria Lombardo; Jyotsna Sudi; Roberta Biancheri; Danilo Castellano-Chiodo; Andrea Rossi; Gemma Incorpora; Norma J Nowak; Susan L Christian; Lorenzo Pavone; William B Dobyns
Journal: Eur J Pediatr Date: 2009-10-17 Impact factor: 3.183