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Items: 21

1.

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.

Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA.

Eur J Med Genet. 2018 Nov 12. pii: S1769-7212(18)30160-5. doi: 10.1016/j.ejmg.2018.11.008. [Epub ahead of print]

PMID:
30439532
2.

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type I Crigler-Najjar Syndrome.

Elfar W, Jarvinen E, Ji W, Mosorin J, Sega AG, Iuga AC, Lobritto SJ, Konstantino M, Chan A, Finel M, Lakhani SA.

Drug Metab Dispos. 2018 Nov 1. pii: dmd.118.084368. doi: 10.1124/dmd.118.084368. [Epub ahead of print]

PMID:
30385458
3.

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.

Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA.

J Med Genet. 2018 Oct 15. pii: jmedgenet-2018-105322. doi: 10.1136/jmedgenet-2018-105322. [Epub ahead of print]

PMID:
30323019
4.

Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.

Jeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino M, Lakhani SA.

Eur J Med Genet. 2018 Oct 6. pii: S1769-7212(18)30080-6. doi: 10.1016/j.ejmg.2018.10.003. [Epub ahead of print]

PMID:
30300710
5.

Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation.

Le Coz C, Nolan BE, Trofa M, Kamsheh AM, Khokha MK, Lakhani SA, Novelli A, Zackai EH, Sullivan KE, Briuglia S, Bhatti TR, Romberg N.

Front Immunol. 2018 Jul 24;9:1715. doi: 10.3389/fimmu.2018.01715. eCollection 2018.

6.

Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses.

Romberg N, Le Coz C, Glauzy S, Schickel JN, Trofa M, Nolan BE, Paessler M, Xu ML, Lambert MP, Lakhani SA, Khokha MK, Jyonouchi S, Heimall J, Takach P, Maglione PJ, Catanzaro J, Hsu FI, Sullivan KE, Cunningham-Rundles C, Meffre E.

J Allergy Clin Immunol. 2018 Jun 20. pii: S0091-6749(18)30897-2. doi: 10.1016/j.jaci.2018.06.012. [Epub ahead of print]

PMID:
29935219
7.

Financial, Resource Utilization and Mortality Impacts of Teaching Hospital Status on Pediatric Patients Admitted for Sepsis.

Hsu BS, Meyer BD, Lakhani SA.

Pediatr Infect Dis J. 2017 Aug;36(8):712-719. doi: 10.1097/INF.0000000000001526.

PMID:
28033241
8.

Acid-Base Disorders.

Hsu BS, Lakhani SA, Wilhelm M.

Pediatr Rev. 2016 Sep;37(9):361-9. doi: 10.1542/pir.2015-0093. Review. No abstract available.

PMID:
27587638
9.

Pediatric Traumatic Brain Injury.

Schaller AL, Lakhani SA, Hsu BS.

S D Med. 2015 Oct;68(10):457-61, 463.

PMID:
26630835
10.

Apoptotic caspases prevent the induction of type I interferons by mitochondrial DNA.

Rongvaux A, Jackson R, Harman CC, Li T, West AP, de Zoete MR, Wu Y, Yordy B, Lakhani SA, Kuan CY, Taniguchi T, Shadel GS, Chen ZJ, Iwasaki A, Flavell RA.

Cell. 2014 Dec 18;159(7):1563-77. doi: 10.1016/j.cell.2014.11.037.

11.

JNK expression by macrophages promotes obesity-induced insulin resistance and inflammation.

Han MS, Jung DY, Morel C, Lakhani SA, Kim JK, Flavell RA, Davis RJ.

Science. 2013 Jan 11;339(6116):218-22. doi: 10.1126/science.1227568. Epub 2012 Dec 6.

12.

Endoplasmic reticulum stress-induced death of mouse embryonic fibroblasts requires the intrinsic pathway of apoptosis.

Masud A, Mohapatra A, Lakhani SA, Ferrandino A, Hakem R, Flavell RA.

J Biol Chem. 2007 May 11;282(19):14132-9. Epub 2007 Mar 19.

13.

Molar tooth development in caspase-3 deficient mice.

Matalova E, Sharpe PT, Lakhani SA, Roth KA, Flavell RA, Setkova J, Misek I, Tucker AS.

Int J Dev Biol. 2006;50(5):491-7.

14.

Caspases 3 and 7: key mediators of mitochondrial events of apoptosis.

Lakhani SA, Masud A, Kuida K, Porter GA Jr, Booth CJ, Mehal WZ, Inayat I, Flavell RA.

Science. 2006 Feb 10;311(5762):847-51.

15.

Toll-like receptor signaling in sepsis.

Lakhani SA, Bogue CW.

Curr Opin Pediatr. 2003 Jun;15(3):278-82. Review.

PMID:
12806257
16.

Influence of cold working and thermal treatment on the fit of implant-supported metal-ceramic fixed partial dentures.

Lakhani SA, Ercoli C, Moss ME, Graser GN, Tallents RH.

J Prosthet Dent. 2002 Aug;88(2):159-69.

PMID:
12397243
17.

Infant feeding practices among middle income urban Africans and Indians in Kenya.

Lakhani SA, Jansen AA.

East Afr Med J. 1987 Feb;64(2):122-30.

PMID:
3622338
18.

Some anthropometric values of Indian infants from Nairobi compared with infants from India, United Kingdom and the Harvard reference values.

Lakhani SA, Jansen AA, Gemert W.

East Afr Med J. 1986 May;63(5):304-11. No abstract available.

PMID:
3743483
19.

Machakos project studies No. XXIV. Anthropometric changes during pregnancy in rural African women.

Jansen AA, Kusin JA, Thiuri B, Lakhani SA, t Mannetje W.

Trop Geogr Med. 1984 Mar;36(1):91-7.

PMID:
6729988
20.

Human milk and milk formulas for infant feeding.

Lakhani SA, Chaudhri T, Jansen AA.

East Afr Med J. 1983 Mar;60(3):181-5. No abstract available.

PMID:
6688581
21.

Anthropometric changes during pregnancy of urban Indian women related to birthweight.

Lakhani SA, Sequeira E, Thiuri B, Mannetje W, Jansen AA.

J Obstet Gynaecol East Cent Africa. 1982 Jun;1(2):84-9.

PMID:
12313670

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