Genetic disorders in the Arab world

Por Al-Gazali, Lihadh, Hamamy, Hanan, Al-Arrayad, Shaikha
Publicado em 2006

Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome

Por Kizhakkedath, Praseetha, John, Anne, Al-Gazali, Lihadh, Ali, Bassam R.
Publicado no Sci Rep (2018)

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises

Por Mohamed, Fedah E., Al-Gazali, Lihadh, Al-Jasmi, Fatma, Ali, Bassam R.
Publicado no Front Pharmacol (2017)

A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract

Por Hertecant, Jozef, Komara, Makanko, Nagi, Aslam, Suleiman, Jehan, Al-Gazali, Lihadh, Ali, Bassam R.
Publicado no Meta Gene (2016)

Normal glycosylation screening does not rule out SRD5A3-CDG

Por Mohamed, Miski, Cantagrel, Vincent, Al-Gazali, Lihadh, Wevers, Ron A, Lefeber, Dirk J, Morava, Eva
Publicado em 2011

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

Por Ali, Bassam R, Silhavy, Jennifer L, Akawi, Nadia A, Gleeson, Joseph G, Al-Gazali, Lihadh
Publicado em 2012

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

Por Ali, Bassam R, Silhavy, Jennifer L, Gleeson, Matthew J, Gleeson, Joseph G, Al-Gazali, Lihadh
Publicado em 2012

LINS, a modulator of the WNT signaling pathway, is involved in human cognition

Por Akawi, Nadia A, Al-Jasmi, Fatma, Al-Shamsi, Aisha M, Ali, Bassam R, Al-Gazali, Lihadh
Publicado em 2013

Mutation spectrum of Joubert syndrome and related disorders among Arabs

Por Ben-Salem, Salma, Al-Shamsi, Aisha M, Gleeson, Joseph G, Ali, Bassam R, Al-Gazali, Lihadh
Publicado no Hum Genome Var (2014)

Mutation spectrum of Joubert syndrome and related disorders among Arabs

Por Ben-Salem, Salma, Al-Shamsi, Aisha M, Gleeson, Joseph G, Ali, Bassam R, Al-Gazali, Lihadh
Publicado no Hum Genome Var (2015)

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity

Por Saar, Kathrin, Al-Gazali, Lihadh, Sztriha, László, Rueschendorf, Franz, Nur-E-Kamal, Mohammed, Reis, André, Bayoumi, Riad
Publicado em 1999

A new Arab family with CEDNIK syndrome suggests a possible founder effect for the c.223delG mutation

Por Ben-Salem, Salma, Nara, Sobreira, Al-Shamsi, Aisha M., Valle, David, Ali, Bassam R., Al-Gazali, Lihadh
Publicado no J Dermatol (2015)

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates

Por Ali, Bassam R, Akawi, Nadia A, Chedid, Faris, Bakir, Mahmood, Ur Rehman, Moghis, Rahmani, Aiman, Al-Gazali, Lihadh
Publicado em 2010

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients

Por Ali, Bassam R., Xu, Huifang, Akawi, Nadia A., John, Anne, Karuvantevida, Noushad S., Langer, Ruth, Al-Gazali, Lihadh, Leitinger, Birgit
Publicado em 2010

Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development

Por Nahorski, Michael S., Borner, Georg H. H., Shaikh, Samiha S., Davies, Alexandra K., Al-Gazali, Lihadh, Antrobus, Robin, Woods, C. Geoffrey
Publicado no Sci Rep (2018)

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

Por Ben-Salem, Salma, Gleeson, Joseph G., Al-Shamsi, Aisha M., Islam, Barira, Hertecant, Jozef, Ali, Bassam R., Al-Gazali, Lihadh
Publicado no Metab Brain Dis (2014)

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Por Akawi, Nadia A., Ben-Salem, Salma, Hertecant, Jozef, John, Anne, Pramathan, Thachillath, Kizhakkedath, Praseetha, Ali, Bassam R., Al-Gazali, Lihadh
Publicado no Orphanet J Rare Dis (2016)

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

Por Alazami, Anas M., Shaheen, Ranad, Alzahrani, Fatema, Snape, Katie, Saggar, Anand, Brinkmann, Bernd, Bavi, Prashant, Al-Gazali, Lihadh I., Alkuraya, Fowzan S.
Publicado em 2009

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

Por Alazami, Anas M., Shaheen, Ranad, Alzahrani, Fatema, Snape, Katie, Saggar, Anand, Brinkmann, Bernd, Bavi, Prashant, Al-Gazali, Lihadh I., Alkuraya, Fowzan S.
Publicado em 2009

Linkage Analysis in Families with Joubert Syndrome Plus Oculo-Renal Involvement Identifies the CORS2 Locus on Chromosome 11p12-q13.3

Por Keeler, Lesley C., Marsh, Sarah E., Leeflang, Esther P., Woods, Christopher G., Sztriha, László, Al-Gazali, Lihadh, Gururaj, Aithala, Gleeson, Joseph G.
Publicado em 2003