Literature DB >> 25572249

Overlap of Patau and Pierre Robin syndromes along with abnormal metabolism: an interesting case study.

Sushil Kumar Jaiswal1, Krishna Kishore Sukla, Vineeta Gupta, Amit Kumar Rai.   

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Year:  2014        PMID： 25572249     DOI： 10.1007/s12041-014-0452-2

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  16 in total

Review 1.  Patau syndrome with a long survival (146 months): a clinical report and review of literature.

Authors:  Dimitrios Iliopoulos; Eleni Sekerli; Georgia Vassiliou; Vasiliki Sidiropoulou; Augerinos Topalidis; Despina Dimopoulou; Nikolaos Voyiatzis
Journal:  Am J Med Genet A       Date:  2006-01-01       Impact factor: 2.802

2.  Clinical and cytogenetic variations of Patau syndrome (demonstration of ten patients).

Authors:  L Zergollern; V Hitrec; D Muzinic
Journal:  J Genet Hum       Date:  1975-10

Review 3.  Folate and neural tube defects.

Authors:  Roy M Pitkin
Journal:  Am J Clin Nutr       Date:  2007-01       Impact factor: 7.045

4.  Trisomy 13 (Patau syndrome) and craniosynostosis.

Authors:  Rafael F M Rosa; Rosana C M Rosa; José A M Flores; Daniel T Chazan; Cristine Dietrich; Mariana B de Barth; Vanessa F Carpes; André C da Cunha; Carla Graziadio; Paulo R G Zen
Journal:  Am J Med Genet A       Date:  2011-07-07       Impact factor: 2.802

5.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

6.  FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.

Authors:  Michella Ghassibe-Sabbagh; Laurence Desmyter; Tobias Langenberg; Filip Claes; Odile Boute; Bénédicte Bayet; Philippe Pellerin; Karlien Hermans; Liesbeth Backx; Maria Adela Mansilla; Sandra Imoehl; Stefanie Nowak; Kerstin U Ludwig; Carlotta Baluardo; Melissa Ferrian; Peter A Mossey; Markus Noethen; Mieke Dewerchin; Geneviève François; Nicole Revencu; Romain Vanwijck; Jacqueline Hecht; Elisabeth Mangold; Jeffrey Murray; Michele Rubini; Joris R Vermeesch; Hélène A Poirel; Peter Carmeliet; Miikka Vikkula
Journal:  Am J Hum Genet       Date:  2011-02-03       Impact factor: 11.025

Review 7.  Folate intake, markers of folate status and oral clefts: is the evidence converging?

Authors:  Candice Y Johnson; Julian Little
Journal:  Int J Epidemiol       Date:  2008-06-26       Impact factor: 7.196

Review 8.  Effects of vitamin B12 and folate deficiency on brain development in children.

Authors:  Maureen M Black
Journal:  Food Nutr Bull       Date:  2008-06       Impact factor: 2.069

9.  Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.

Authors:  Linda P Jakobsen; Reinhard Ullmann; Steen B Christensen; Karl Erik Jensen; Kirsten Mølsted; Karen F Henriksen; Claus Hansen; Mary A Knudsen; Lars A Larsen; Niels Tommerup; Zeynep Tümer
Journal:  J Med Genet       Date:  2007-06       Impact factor: 6.318

10.  Low birthweight (LBW) and neonatal hyperbilirubinemia (NNH) in an Indian cohort: association of homocysteine, its metabolic pathway genes and micronutrients as risk factors.

Authors:  Krishna Kishore Sukla; Pankaj Kumar Tiwari; Ashok Kumar; Rajiva Raman
Journal:  PLoS One       Date:  2013-08-06       Impact factor: 3.240
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