Congenital, Hereditary, and Neonatal Diseases and Abnormalities research, articles, guidelines & medical evidence database search.
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All Pubmed data courtesy of the U.S. National Library of Medicine. Library last updated 19 December 2020.
Clinical trials databases last updated 1 December 2020 (clinicaltrials.gov) and 1 December 2020 (ictrp)
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Research
Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.
Dong Yin Yao, Wang Hua, Pike Ashley C W, Cochrane Stephen A, Hamedzadeh Sadra ...
Cell Vol 175(4)
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Date 01 Nov 2018
Research
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cantagrel Vincent, Lefeber Dirk J, Ng Bobby G, Guan Ziqiang, Silhavy Jennifer L ...
Cell Vol 142(2)
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Date 23 Jul 2010
Research
The left-right coordinator: the role of Vg1 in organizing left-right axis formation.
Hyatt B A, Yost H J
Cell Vol 93(1)
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Date 03 Apr 1998
Research
Structural Basis of Zika Virus-Specific Antibody Protection.
Zhao Haiyan, Fernandez Estefania, Dowd Kimberly A, Speer Scott D, Platt Derek J ...
Cell Vol 166(4)
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Date 11 Aug 2016
Research
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.
Lübke T, Marquardt T, Etzioni A, Hartmann E, von Figura K ...
Nature genetics Vol 28(1)
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Date 01 May 2001
Research
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
Putnam E A, Zhang H, Ramirez F, Milewicz D M
Nature genetics Vol 11(4)
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Date 01 Dec 1995
Research
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.
Goriely Anne, Hansen Ruth M S, Taylor Indira B, Olesen Inge A, Jacobsen Grete Krag ...
Nature genetics Vol 41(11)
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Date 01 Nov 2009
Research
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J ...
Nature genetics Vol 16(1)
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Date 01 May 1997
Research
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.
Bonnard Carine, Strobl Anna C, Shboul Mohammad, Lee Hane, Merriman Barry ...
Nature genetics Vol 44(6)
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Date 13 May 2012
Research
Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors.
Zhu Lei, Lee Hyung-Ok, Jordan ChaRandle S, Cantrell V Ashley, Southard-Smith E Michelle ...
Nature genetics Vol 36(7)
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Date 01 Jul 2004
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