L. Al Gazali: search on Z-Library

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1

Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations

Hume, Alistair N., John, Anne, Akawi, Nadia A., Al-Awadhi, Aydah M., Al-Suwaidi, Sarah S., Al-Gazali, Lihadh, Ali, Bassam R.

Journal:

Molecular and Cellular Biochemistry

Year:

2013

Language:

english

File:

PDF, 1012 KB

english, 2013

2

CONSANGUINEOUS MARRIAGES IN THE UNITED ARAB EMIRATES

AL-GAZALI, L. I., BENER, A., ABDULRAZZAQ, Y. M., MICALLEF, R., AL-KHAYAT, A. I., GABER, T.

Journal:

Journal of Biosocial Science

Year:

1997

Language:

english

File:

PDF, 105 KB

english, 1997

3

A mutation inKIF7is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 1.67 MB

english, 2012

4

The mutational spectrum of theNF1gene in neurofibromatosis type I patients from UAE

Ben-Salem, Salma, Al-Shamsi, Aisha M., Ali, Bassam R., Al-Gazali, Lihadh

Journal:

Child's Nervous System

Year:

2014

Language:

english

File:

PDF, 338 KB

english, 2014

5

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackso

Journal:

Genetics in Medicine

Year:

2020

Language:

english

File:

PDF, 1.53 MB

english, 2020

6

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene

Akawi, Nadia, Ben-Salem, Salma, Lahti, Laura, Partanen, Juha, Ali, Bassam R., Al-Gazali, Lihadh

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1023 KB

english, 2016

7

Mental Health Problems Among Schoolchildren in United Arab Emirates: Prevalence and Risk Factors

EAPEN, VALSAMMA, AL-GAZALI, LIHADH, BIN-OTHMAN, SALEM, ABOU-SALEH, MOHAMMED

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

1998

Language:

english

File:

PDF, 689 KB

english, 1998

8

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

Rauch, A., Thiel, C. T., Schindler, D., Wick, U., Crow, Y. J., Ekici, A. B., van Essen, A. J., Goecke, T. O., Al-Gazali, L., Chrzanowska, K. H., Zweier, C., Brunner, H. G., Becker, K., Curry, C. J., D

Journal:

Year:

2008

Language:

english

File:

PDF, 420 KB

english, 2008

9

Attitudes toward Genetic Counseling in the United Arab Emirates

Al-Gazali, L.I.

Journal:

Community Genetics

Year:

2005

Language:

english

File:

PDF, 73 KB

english, 2005

10

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

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 1.19 MB

english, 2013

11

United Arab Emirates: Communities and Community Genetics

Al-Gazali, L.I., Alwash, R., Abdulrazzaq, Y.M.

Journal:

Community Genetics

Year:

2005

Language:

english

File:

PDF, 275 KB

english, 2005

12

EPG5 -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohamme

Journal:

Year:

2016

Language:

english

File:

PDF, 1.49 MB

english, 2016

13

Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus

Al-Jezawi, Nesreen K., Al-Shamsi, Aisha M., Suleiman, Jehan, Ben-Salem, Salma, John, Anne, Vijayan, Ranjit, Ali, Bassam R., Al-Gazali, Lihadh

Journal:

BMC Medical Genetics

Year:

2018

Language:

english

File:

PDF, 2.39 MB

english, 2018

14

Doppler assessment of umbilical artery blood flow for the prediction of outcome in fetal cardiac abnormality

WIDAD AL-GAZALI, MICHAEL G. CHAPMAN, SUNDER K. CHITA, DIANE C. CRAWFORD, LINDSEY D. ALLAN

Journal:

BJOG: An International Journal of Obstetrics & Gynaecology

Year:

1987

Language:

english

File:

PDF, 299 KB

english, 1987

15

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

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

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 518 KB

english, 2009

16

Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations

NA Akawi, L Al-Gazali, BR Ali

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 1.08 MB

english, 2012

17

CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah E. Marsh, Lorena Travaglini, Stephanie L. Bielas, Maria Amorini, Dominika Zablocka, Hulya Kayserili, Lihadh Al-Gazali, Enrico Bertini,

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 4.23 MB

english, 2007

18

A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents

AL GAZALI, L. I., SABRINATHAN, K., NAIR, K. G. R.

Journal:

Clinical Dysmorphology

Year:

1994

File:

PDF, 1.26 MB

1994

19

United Arab Emirates population data on three DNA tetrameric short tandem repeat loci: HUMTHO1, TPOX and CSF1PO — derived using multiplex polymerase chain reaction and manual typing

Professor Riad A. Bayoumi, Lihadh I. Al-Gazali, Uzma Jaffer, Mohamed S. A. Nur-E-kamal, Adekunle Dawodu, Abdulbari Bener, Valsamma Eapen, Bruce Budowle

Journal:

ELECTROPHORESIS

Year:

1997

Language:

english

File:

PDF, 376 KB

english, 1997

20

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

Sevjidmaa Baasanjav, Lihadh Al-Gazali, Taishi Hashiguchi, Shuji Mizumoto, Bjoern Fischer, Denise Horn, Dominik Seelow, Bassam R. Ali, Samir A.A. Aziz, Ruth Langer, Ahmed A.H. Saleh, Christian Becker,

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 895 KB

english, 2011

21

The genetic basis of inherited primary nocturnal enuresis: a UAE study

Riad A. Bayoumi, Valsamma Eapen, Saeed Al-Yahyaee, Hameeda S. Al Barwani, Robert S. Hill, Lihadh Al Gazali

Journal:

Journal of Psychosomatic Research

Year:

2006

Language:

english

File:

PDF, 106 KB

english, 2006

22

Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Nathalie Dagoneau, Deborah Scheffer, Céline Huber, Lihadh I. Al-Gazali, Maja Di Rocco, Anne Godard, Jelena Martinovic, Annick Raas-Rothschild, Sabine Sigaudy, Sheila Unger, Sophie Nicole, Bertrand Fon

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.19 MB

english, 2004

23

Hennekam syndrome can be caused byFAT4mutations and be allelic to Van Maldergem syndrome

Alders, Mariëlle, Al-Gazali, Lihadh, Cordeiro, Isabelle, Dallapiccola, Bruno, Garavelli, Livia, Tuysuz, Beyhan, Salehi, Faranak, Haagmans, Martin A., Mook, Olaf R., Majoie, Charles B., Mannens, Marcel

Journal:

Year:

2014

Language:

english

File:

PDF, 483 KB

english, 2014

24

Prenatal diagnosis of thanatophoric dysplasia and obstetrical challenges

Bekdache, G. N., Begum, M., Al-Gazali, L., Ali, B. R., Akawi, N. A., Mirghani, H.

Journal:

Journal of Obstetrics & Gynaecology

Year:

2010

Language:

english

File:

PDF, 321 KB

english, 2010

25

Human Genome Sequencing: Celebrating 10 Years

Journal:

Year:

2011

Language:

english

File:

PDF, 343 KB

english, 2011

26

Further delineation of Raine syndrome

Al-Gazali, L.I., Jehier, K., Nazih, B., Abtin, F., Haas, D., Sadagahatian, R.

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 151 KB

english, 2003

27

The Schwartz-Jampel syndrome

AL GAZALI, L. I.

Journal:

Clinical Dysmorphology

Year:

1993

File:

PDF, 3.40 MB

1993

28

Otospondylomegaepiphyseal dysplasia

AL GAZALI, L. I., LYTLE, W.

Journal:

Clinical Dysmorphology

Year:

1994

File:

PDF, 1.54 MB

1994

29

Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II

Al-Jezawi, Nesreen K., Ali, Bassam R., Al-Gazali, Lihadh

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 980 KB

english, 2017

30

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Balwi, Mohammed Al, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Shamsi, Aisha M. Al, Komara, Makanko, Ali, Bassam R., Ro

Journal:

Year:

2017

Language:

english

File:

PDF, 381 KB

english, 2017

31

Expanding the clinical and genetic spectra of NKX6-2 -related disorder

Baldi, C., Bertoli-Avella, A.M., Al-Sannaa, N., Alfadhel, M., Al-Thilhi, K., Alameer, S., Elmonairy, A.A., Al Shamsi, A.M., Abdelrahman, H.A., Al-Gazali, L., Shawli, A., Al Hakami, F., Yavuz, H., Kand

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.42 MB

english, 2018

32

Extreme Microcephaly With Agyria-Pachygyria, Partial Agenesis of the Corpus Callosum, and Pontocerebellar Dysplasia

Sztriha, L., Al-Gazali, L. I.

Journal:

Journal of Child Neurology

Year:

2005

Language:

english

File:

PDF, 164 KB

english, 2005

33

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

Ali, B. R., Xu, H., Akawi, N. A., John, A., Karuvantevida, N. S., Langer, R., Al-Gazali, L., Leitinger, B.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 549 KB

english, 2010

34

Electroencephalography, Doppler Vascular Scanning, and Single Photon Emission Computed Tomography in a Child with Hydranencephaly and Intractable Seizures

Gururaj, A., Varady, E., Sztriha, L., Al-Gazali, L., Al Suhaili, A., Gorka, W., Nork, M.

Journal:

Journal of Child Neurology

Year:

2005

Language:

english

File:

PDF, 231 KB

english, 2005

35

A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family

Ben-Salem, S., Begum, M.A., Ali, B.R., Al-Gazali, L.

Journal:

Molecular Syndromology

Year:

2012

Language:

english

File:

PDF, 2.27 MB

english, 2012

36

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

Mohamed, Fedah E., Al-Gazali, Lihadh, Al-Jasmi, Fatma, Ali, Bassam R.

Journal:

Frontiers in Pharmacology

Year:

2017

Language:

english

File:

PDF, 3.45 MB

english, 2017

37

Biallelic Mutations in ADPRHL2 , Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, A

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 497 KB

english, 2018

38

Is autosomal recessive Silver–Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?

Nadia A. Akawi, Bassam R. Ali, Hanan Hamamy, Azmy Al-Hadidy, Lihadh Al-Gazali

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 11.08 MB

english, 2011

39

A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract

Nadia A. Akawi, Bassam R. Ali, Lihadh Al-Gazali

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2012

Language:

english

File:

PDF, 149 KB

english, 2012

40

Identification of CANT1 Mutations in Desbuquois Dysplasia

Céline Huber, Bénédicte Oulès, Marta Bertoli, Mounia Chami, Mélanie Fradin, Yasemin Alanay, Lihadh I. Al-Gazali, Margreet G.E.M. Ausems, Pierre Bitoun, Denise P. Cavalcanti, Alexander Krebs, Martine L

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 979 KB

english, 2009

41

Hypocalvaria associated with intrauterine growth retardation, facial dysmorphism, congenital heart disease and camptomelia

Al-Gazali, L. I., Bakalinova, D., Aziz, S., Anwer, O., Shather, W., Sztriha, L.

Journal:

Clinical Dysmorphology

Year:

1999

File:

PDF, 3.42 MB

1999

42

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, De Keers

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 808 KB

english, 2016

43

Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population

Lihadh I. Al-Gazali, Mahmood Bakir, Zuhair Hamid, Elizabeth Varady, Mani Varghes, Danialla Haas, Abdulbari Bener, Rengasamy Padmanabhan, Yeusef M. Abdulrrazzzaq, Aden Kula Dawodu

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2003

Language:

english

File:

PDF, 249 KB

english, 2003

44

Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia

Mehmet Simsek, Lihadh Al-Gazali, Reyhanah Al-Mjeni, Riad Bayoumi

Journal:

Clinical Biochemistry

Year:

2003

Language:

english

File:

PDF, 62 KB

english, 2003

45

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Alders, Marielle, Hogan, Benjamin M, Gjini, Evisa, Salehi, Faranak, Al-Gazali, Lihadh, Hennekam, Eric A, Holmberg, Eva E, Mannens, Marcel M A M, Mulder, Margot F, Offerhaus, G Johan A

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 526 KB

english, 2009

46

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.

Campbell, D A, McHale, D P, Brown, K A, Moynihan, L M, Houseman, M, Karbani, G, Parry, G, Janjua, A H, Newton, V, al-Gazali, L, Markham, A F, Lench, N J, Mueller, R F

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 441 KB

english, 1997

47

Autosomal Recessive Micrencephaly with Simplified Gyral Pattern, Abnormal Myelination and Arthrogryposis

Sztriha, L., Al-Gazali, L., Várady, E., Goebel, H., Nork, M.

Journal:

Neuropediatrics

Year:

1999

Language:

english

File:

PDF, 1.80 MB

english, 1999

48

Further delineation of Hennekam syndrome

Al-Gazali, L. I., Hertecant, J., Ahmed, R., Khan, N. A., Padmanabhan, R.

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 230 KB

english, 2003

49

New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation

Ben-Salem, Salma, Nara, Sobreira, Al-Shamsi, Aisha M., Valle, David, Ali, Bassam R., Al-Gazali, Lihadh

Journal:

The Journal of Dermatology

Year:

2015

Language:

english

File:

PDF, 99 KB

english, 2015

50

Wolcott-Rallison syndrome

AL-GAZALI, L. I, MAKIA, S., AZZAM, A., HALL, C. M.

Journal:

Clinical Dysmorphology

Year:

1995

File:

PDF, 1.19 MB

1995

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