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Items: 1 to 20 of 94

1.

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics.

Am J Hum Genet. 2013 Jan 10;92(1):137-43. doi: 10.1016/j.ajhg.2012.11.011. Epub 2012 Dec 27.

2.

New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.

Ali BR, Hertecant JL, Al-Jasmi FA, Hamdan MA, Khuri SF, Akawi NA, Al-Gazali LI.

Saudi Med J. 2011 Apr;32(4):353-9.

PMID:
21483992
3.

Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.

Tukel T, Šošić D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ.

Am J Hum Genet. 2010 Aug 13;87(2):289-96. doi: 10.1016/j.ajhg.2010.07.009.

4.

A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family.

Hertecant JL, Al-Gazali LI, Karuvantevida NS, Ali BR.

Saudi Med J. 2009 Dec;30(12):1601-3.

PMID:
19936428
5.

Identification of CANT1 mutations in Desbuquois dysplasia.

Huber C, Oulès B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Bréchot P, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2009 Nov;85(5):706-10. doi: 10.1016/j.ajhg.2009.10.001. Epub 2009 Oct 22.

6.

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS.

Am J Hum Genet. 2009 Sep;85(3):414-8. doi: 10.1016/j.ajhg.2009.08.010. Erratum in: Am J Hum Genet. 2009 Nov;85(5):756.

7.

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crosby AH.

Am J Hum Genet. 2007 Nov;81(5):906-12. Epub 2007 Sep 14.

8.

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.

Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2007 May;80(5):966-70. Epub 2007 Mar 13.

9.

Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.

Taban M, Memoracion-Peralta DS, Wang H, Al-Gazali LI, Traboulsi EI.

J AAPOS. 2007 Oct;11(5):431-7. Epub 2007 Mar 26.

PMID:
17383910
10.

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.

Al-Yahyaee S, Al-Gazali LI, De Jonghe P, Al-Barwany H, Al-Kindi M, De Vriendt E, Chand P, Koul R, Jacob PC, Gururaj A, Sztriha L, Parrado A, Van Broeckhoven C, Bayoumi RA.

Neurology. 2006 Apr 25;66(8):1230-4.

PMID:
16636240
11.

Sporadic Larsen syndrome in a preterm female originally diagnosed as positional deformities due to oligohydramnios.

Rizk DE, Nath KR, Ibrahim IK, Arafat NA, Al-Gazali LI.

Am J Perinatol. 2006 Jan;23(1):71-4.

PMID:
16450278
12.

United Arab Emirates: communities and community genetics.

Al-Gazali LI, Alwash R, Abdulrazzaq YM.

Community Genet. 2005;8(3):186-96.

PMID:
16113536
13.

Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia.

Sztriha L, Johansen JG, Al-Gazali LI.

J Child Neurol. 2005 Feb;20(2):170-2.

PMID:
15794192
14.

Attitudes toward genetic counseling in the United Arab Emirates.

Al-Gazali LI.

Community Genet. 2005;8(1):48-51.

PMID:
15767756
15.

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).

Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B.

Am J Med Genet A. 2005 Mar 1;133A(2):158-64. Review.

PMID:
15666309
16.

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA.

Am J Med Genet A. 2005 Feb 15;133A(1):53-7.

PMID:
15637732
17.

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

Bartels CF, Bükülmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML.

Am J Hum Genet. 2004 Jul;75(1):27-34. Epub 2004 May 14.

18.

["Body stalk anomaly" (dysplasia umbilico-fetalis) -- an extremely rare malformation].

Langer R, Raupp P, Al-Gazali LI.

Rofo. 2004 May;176(5):768-9. German. No abstract available.

PMID:
15122482
19.

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V.

Am J Hum Genet. 2004 Feb;74(2):298-305. Epub 2004 Jan 21.

20.

Further delineation of Hennekam syndrome.

Al-Gazali LI, Hertecant J, Ahmed R, Khan NA, Padmanabhan R.

Clin Dysmorphol. 2003 Oct;12(4):227-32. Review.

PMID:
14564208

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