Robin NH - Search Results

1

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.

Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Patterson V, et al. Among authors: robin nh. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126546 Free PMC article.

2

New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma.

Robin NH, Grace K, DeSouza TG, McDonald-McGinn D, Zackai EH. Robin NH, et al. Am J Med Genet. 1993 Nov 1;47(6):852-6. doi: 10.1002/ajmg.1320470611. Am J Med Genet. 1993. PMID: 7506484

3

Unusual craniofacial dysmorphia due to prenatal alcohol and cocaine exposure.

Robin NH, Zackai EH. Robin NH, et al. Teratology. 1994 Aug;50(2):160-4. doi: 10.1002/tera.1420500210. Teratology. 1994. PMID: 7801303 No abstract available.

4

De novo interstitial deletion of the long arm of chromosome 3: 46,XX,del(3)(q25.1q26.1).

Robin NH, Magnusson M, McDonald-McGinn D, Zackai EH, Spinner NB. Robin NH, et al. Clin Genet. 1993 Dec;44(6):335-7. doi: 10.1111/j.1399-0004.1993.tb03911.x. Clin Genet. 1993. PMID: 8131307

5

Human malformations similar to those in the mouse mutation disorganization (Ds).

Robin NH, Adewale OO, McDonald-McGinn D, Nadeau JH, Zackai EH, Bućan M. Robin NH, et al. Hum Genet. 1993 Nov;92(5):461-4. doi: 10.1007/BF00216451. Hum Genet. 1993. PMID: 8244336

6

Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism?

Zackai EH, Robin NH, McDonald-McGinn DM. Zackai EH, et al. Among authors: robin nh. Am J Med Genet. 1997 Apr 14;69(4):348-51. doi: 10.1002/(sici)1096-8628(19970414)69:4<348::aid-ajmg2>3.0.co;2-h. Am J Med Genet. 1997. PMID: 9098480 Review.

7

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.

Cheng YW, Tan CA, Minor A, Arndt K, Wysinger L, Grange DK, Kozel BA, Robin NH, Waggoner D, Fitzpatrick C, Das S, Del Gaudio D. Cheng YW, et al. Among authors: robin nh. Mol Genet Genomic Med. 2014 Mar;2(2):115-23. doi: 10.1002/mgg3.48. Epub 2013 Nov 14. Mol Genet Genomic Med. 2014. PMID: 24689074 Free PMC article.

8

DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism.

Chen Y, Karaca E, Robin NH, Goodloe D, Al-Beshri A, Dean SJ, Hurst ACE, Carroll AJ, Mikhail FM. Chen Y, et al. Among authors: robin nh. Genet Med. 2024 Jan;26(1):101010. doi: 10.1016/j.gim.2023.101010. Epub 2023 Oct 16. Genet Med. 2024. PMID: 37860969

9

A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.

Feldman GJ, Robin NH, Brueton LA, Robertson E, Thompson EM, Siegel-Bartelt J, Gasser DL, Bailey LC, Zackai EH, Muenke M. Feldman GJ, et al. Among authors: robin nh. Am J Hum Genet. 1995 Apr;56(4):938-43. Am J Hum Genet. 1995. PMID: 7717404 Free PMC article.

10

Classical Noonan syndrome is not associated with deletions of 22q11.

Robin NH, Sellinger B, McDonald-McGinn D, Zackai EH, Emanuel BS, Driscoll DA. Robin NH, et al. Am J Med Genet. 1995 Mar 13;56(1):94-6. doi: 10.1002/ajmg.1320560121. Am J Med Genet. 1995. PMID: 7747795

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