Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

25 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
Boissel S, Reish O, Proulx K, Kawagoe-Takaki H, Sedgwick B, Yeo GS, Meyre D, Golzio C, Molinari F, Kadhom N, Etchevers HC, Saudek V, Farooqi IS, Froguel P, Lindahl T, O'Rahilly S, Munnich A, Colleaux L. Boissel S, et al. Among authors: kadhom n. Am J Hum Genet. 2009 Jul;85(1):106-11. doi: 10.1016/j.ajhg.2009.06.002. Epub 2009 Jun 25. Am J Hum Genet. 2009. PMID: 19559399 Free PMC article.
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.
Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L. Molinari F, et al. Among authors: kadhom n. Am J Hum Genet. 2005 Feb;76(2):334-9. doi: 10.1086/427564. Epub 2004 Dec 8. Am J Hum Genet. 2005. PMID: 15592994 Free PMC article.
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
Bénit P, Steffann J, Lebon S, Chretien D, Kadhom N, de Lonlay P, Goldenberg A, Dumez Y, Dommergues M, Rustin P, Munnich A, Rötig A. Bénit P, et al. Among authors: kadhom n. Hum Genet. 2003 May;112(5-6):563-6. doi: 10.1007/s00439-002-0884-2. Epub 2003 Mar 4. Hum Genet. 2003. PMID: 12616398
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.
De Lonlay P, Mugnier C, Sanlaville D, Chantrel-Groussard K, Bénit P, Lebon S, Chrétien D, Kadhom N, Saker S, Gyapay G, Romana S, Weissenbach J, Munnich A, Rustin P, Rötig A. De Lonlay P, et al. Among authors: kadhom n. Hum Mol Genet. 2002 Dec 15;11(26):3273-81. doi: 10.1093/hmg/11.26.3273. Hum Mol Genet. 2002. PMID: 12471054
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Génin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, Johnson CA, Attié-Bitach T; SOFFOET (Société Française de Foetopathologie). Khaddour R, et al. Among authors: kadhom n. Hum Mutat. 2007 May;28(5):523-4. doi: 10.1002/humu.9489. Hum Mutat. 2007. PMID: 17397051
Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.
Bonaventure J, Cohen-Solal L, Ritvaniemi P, Van Maldergem L, Kadhom N, Delezoide AL, Maroteaux P, Prockop DJ, Ala-Kokko L. Bonaventure J, et al. Among authors: kadhom n. Biochem J. 1995 May 1;307 ( Pt 3)(Pt 3):823-30. doi: 10.1042/bj3070823. Biochem J. 1995. PMID: 7741714 Free PMC article.
25 results