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Items: 9

1.

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.

Sandokji I, Marquez J, Ji W, Zerillo CA, Konstantino M, Lakhani SA, Khokha MK, Warejko JK.

BMC Nephrol. 2019 Jul 17;20(1):271. doi: 10.1186/s12882-019-1458-z.

2.

Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.

Kiraly-Borri C, Jevon G, Ji W, Jeffries L, Ricciardi JL, Konstantino M, Ackerman KG, Lakhani SA.

Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). pii: a003699. doi: 10.1101/mcs.a003699. Print 2019 Jun.

3.

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. 2019 Nov;62(11):103574. doi: 10.1016/j.ejmg.2018.11.008. Epub 2018 Nov 12.

PMID:
30439532
4.

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome.

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

Drug Metab Dispos. 2019 Jan;47(1):45-48. doi: 10.1124/dmd.118.084368. Epub 2018 Nov 1.

PMID:
30385458
5.

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. 2019 Feb;56(2):113-122. doi: 10.1136/jmedgenet-2018-105322. Epub 2018 Oct 15.

PMID:
30323019
6.

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. 2019 Sep;62(9):103551. doi: 10.1016/j.ejmg.2018.10.003. Epub 2018 Oct 6.

PMID:
30300710
7.

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.

Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S.

Am J Med Genet A. 2018 Feb;176(2):415-420. doi: 10.1002/ajmg.a.38557. Epub 2017 Dec 21.

PMID:
29266745
8.

Randomized trial of enteral protein and energy supplementation in infants less than or equal to 1250 g at birth.

Brumberg HL, Kowalski L, Troxell-Dorgan A, Gettner P, Konstantino M, Poulsen JF, Ehrenkranz RA.

J Perinatol. 2010 Aug;30(8):517-21. doi: 10.1038/jp.2010.10. Epub 2010 Mar 4.

PMID:
20200540
9.

Umbilical venous catheterization and the risk of portal vein thrombosis.

Schwartz DS, Gettner PA, Konstantino MM, Bartley CL, Keller MS, Ehrenkranz RA, Jacobs HC.

J Pediatr. 1997 Nov;131(5):760-2.

PMID:
9403662

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