Literature DB >> 22354285

Evidence for SHH as a candidate gene for encephalocele.

Kelly A Bear1, Benjamin D Solomon, Erich Roessler, Daniel E Pineda Alvarez, Shobana Kubendran, Margaret O'Hara, Maximilian Muenke.   

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Year:  2012        PMID： 22354285      PMCID： PMC3366050          DOI： 10.1097/MCD.0b013e3283518eb0

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.884


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  17 in total

1.  Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.

Authors:  Hansoo Park; Jong-Il Kim; Young Seok Ju; Omer Gokcumen; Ryan E Mills; Sheehyun Kim; Seungbok Lee; Dongwhan Suh; Dongwan Hong; Hyunseok Peter Kang; Yun Joo Yoo; Jong-Yeon Shin; Hyun-Jin Kim; Maryam Yavartanoo; Young Wha Chang; Jung-Sook Ha; Wilson Chong; Ga-Ram Hwang; Katayoon Darvishi; Hyeran Kim; Song Ju Yang; Kap-Seok Yang; Hyungtae Kim; Matthew E Hurles; Stephen W Scherer; Nigel P Carter; Chris Tyler-Smith; Charles Lee; Jeong-Sun Seo
Journal:  Nat Genet       Date:  2010-04-04       Impact factor: 38.330

2.  Diagnosis and management of cephaloceles.

Authors:  George A Alexiou; George Sfakianos; Neofytos Prodromou
Journal:  J Craniofac Surg       Date:  2010-09       Impact factor: 1.046

3.  Partial trisomy for the long arm of chromosome 7. Case report and review.

Authors:  M A Novales; C Fernandez-Novoa; A Hevia; V San Martin; H Galera
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  Canopy1, a novel regulator of FGF signaling around the midbrain-hindbrain boundary in zebrafish.

Authors:  Yoshikazu Hirate; Hitoshi Okamoto
Journal:  Curr Biol       Date:  2006-02-21       Impact factor: 10.834

Review 5.  Syndromes, disorders and maternal risk factors associated with neural tube defects (VII).

Authors:  Chih-Ping Chen
Journal:  Taiwan J Obstet Gynecol       Date:  2008-09       Impact factor: 1.705

6.  Patterning activities of vertebrate hedgehog proteins in the developing eye and brain.

Authors:  S C Ekker; A R Ungar; P Greenstein; D P von Kessler; J A Porter; R T Moon; P A Beachy
Journal:  Curr Biol       Date:  1995-08-01       Impact factor: 10.834

Review 7.  The relationship between sonic Hedgehog signaling, cilia, and neural tube defects.

Authors:  Jennifer N Murdoch; Andrew J Copp
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2010-08

8.  Sonic hedgehog and the molecular regulation of mouse neural tube closure.

Authors:  Patricia Ybot-Gonzalez; Patricia Cogram; Dianne Gerrelli; Andrew J Copp
Journal:  Development       Date:  2002-05       Impact factor: 6.868

9.  Balanced Shh signaling is required for proper formation and maintenance of dorsal telencephalic midline structures.

Authors:  Diana S Himmelstein; Chunming Bi; Brian S Clark; Brian Bai; Jhumku D Kohtz
Journal:  BMC Dev Biol       Date:  2010-11-29       Impact factor: 1.978

10.  Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome.

Authors:  Cheng Cui; Bishwanath Chatterjee; Deanne Francis; Qing Yu; Jovenal T SanAgustin; Richard Francis; Terry Tansey; Charisse Henry; Baolin Wang; Bethan Lemley; Gregory J Pazour; Cecilia W Lo
Journal:  Dis Model Mech       Date:  2010-11-02       Impact factor: 5.758
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  3 in total

1.  De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.

Authors:  Muna A Al Dhaibani; Diane Allingham-Hawkins; Ayman W El-Hattab
Journal:  BMC Med Genet       Date:  2017-10-23       Impact factor: 2.103

2.  Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies.

Authors:  Mark Micale; Bedford Embrey; Katie Hubbell; Kelly Beaudry-Rogers; Amy Whitten
Journal:  Clin Case Rep       Date:  2017-05-10

3.  Abnormal transcriptome-wide DNA demethylation induced by folate deficiency causes neural tube defects.

Authors:  Shan Wang; Yubing Zeng; Pei Pei; Xuejia He; Fan Liu; Ting Zhang
Journal:  Front Genet       Date:  2022-09-19       Impact factor: 4.772
  3 in total

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