Hatem I. El-Shanti : rechercher sur Z-Library

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Don't use scam websites

Livres
Articles (48)
Les plus populaires
Liste
- Liste
- Tableau

1

Henoch-Schonlein purpura and streptococcal infection: a prospective case-control study

Al-Sheyyab, Mahmoud, Batieha, Anwar, El-Shanti, Hatem, Daoud, Azhar

Journal:

Annals of Tropical Paediatrics International Child Health

Année:

1999

Langue:

english

Fichier:

PDF, 80 KB

english, 1999

2

A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report

Ahram, Dina F., Al-Sarraj, Yasser, Taha, Rowaida Z., Elhag, Saba F., Al-Shaban, Fouad A., El-Shanti, Hatem, Kambouris, Marios

Journal:

Clinical Case Reports

Année:

2017

Langue:

english

Fichier:

PDF, 293 KB

english, 2017

3

Genotype/phenotype correlations in Arab patients with familial Mediterranean fever

Hasan A. Majeed, Hatem El-Shanti, Mohammed S. Al-Khateeb, Z.Abu Rabaiha

Journal:

Seminars in Arthritis and Rheumatism

Année:

2002

Langue:

english

Fichier:

PDF, 55 KB

english, 2002

4

Independent Introduction of Two Lactase-Persistence Alleles into Human Populations Reflects Different History of Adaptation to Milk Culture

Nabil Sabri Enattah, Tine G.K. Jensen, Mette Nielsen, Rikke Lewinski, Mikko Kuokkanen, Heli Rasinpera, Hatem El-Shanti, Jeong Kee Seo, Michael Alifrangis, Insaf F. Khalil, Abdrazak Natah, Ahmed Ali, S

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 1.28 MB

english, 2008

5

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome

Kambouris, Marios, Maroun, Rachid C, Ben-Omran, Tawfeg, Al-Sarraj, Yasser, Errafii, Khaoula, Ali, Rehab, Boulos, Hala, Curmi, Patrick A, El-Shanti, Hatem

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 381 KB

english, 2014

6

Chronic Recurrent Multifocal Osteomyelitis

El-Shanti, Hatem I, Ferguson, Polly J

Journal:

Clinical Orthopaedics and Related Research®

Année:

2007

Langue:

english

Fichier:

PDF, 313 KB

english, 2007

7

Identification of de novo and rare inherited mutations in autism spectrum disorder probands from Qatar by whole genome sequencing.

El-Shanti, Hatem

Journal:

Qatar Foundation Annual Research Forum Proceedings

Année:

2013

Langue:

english

Fichier:

PDF, 222 KB

english, 2013

8

Breakpoint localization using array-CGH in three siblings with an unbalanced 4q;16q translocation and childhood apraxia of speech (CAS)

Lawrence D. Shriberg, Kathy J. Jakielski, Hatem El-Shanti

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 165 KB

english, 2008

9

A splice site mutation confirms the role of LPIN2 in Majeed syndrome

Zakiya S. Al-Mosawi, Khulood K. Al-Saad, Roya Ijadi-Maghsoodi, Hatem I. El-Shanti, Polly J. Ferguson

Journal:

Arthritis & Rheumatism

Année:

2007

Langue:

english

Fichier:

PDF, 201 KB

english, 2007

10

Neutrophil dysfunction in a family with a SAPHO syndrome–like phenotype

Polly J. Ferguson, Mary A. Lokuta, Hatem I. El-Shanti, Leah Muhle, Xinyu Bing, Anna Huttenlocher

Journal:

Arthritis & Rheumatism

Année:

2008

Langue:

english

Fichier:

PDF, 122 KB

english, 2008

11

The infevers autoinflammatory mutation online registry: update with new genes and functions

Florian Milhavet, Laurence Cuisset, Hal M. Hoffman, Rima Slim, Hatem El-Shanti, Ivona Aksentijevich, Suzanne Lesage, Hans Waterham, Carol Wise, Cyril Sarrauste de Menthiere, Isabelle Touitou

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 243 KB

english, 2008

12

The clinical spectrum of Henoch-Schönlein purpura in infants and young children

Mahmoud Al-Sheyyab, Hatem El-Shanti, Saleh Ajlouni, Dima Sawalha, Azhar Daoud

Journal:

European Journal of Pediatrics

Année:

1995

Langue:

english

Fichier:

PDF, 513 KB

english, 1995

13

Novel sequence variants in theTMIEgene in families with autosomal recessive nonsyndromic hearing impairment

Regie Lyn P. Santos, Hatem El-Shanti, Shaheen Sikandar, Kwanghyuk Lee, Attya Bhatti, Kai Yan, Maria H. Chahrour, Nathan McArthur, Thanh L. Pham, Amjad Abdullah Mahasneh, Wasim Ahmad, Suzanne M. Leal

Journal:

Journal of Molecular Medicine

Année:

2006

Langue:

english

Fichier:

PDF, 131 KB

english, 2006

14

Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”

Dana Hiyasat, Munir A. Dehyyat, Saleh Ajlouni, Ammar F. Mubaidin, Maha Till, Azmi Hadidi, Hatem El-Shanti, Kamel M. Ajlouni

Journal:

European Journal of Pediatrics

Année:

2002

Langue:

english

Fichier:

PDF, 71 KB

english, 2002

15

Further delineation of El-Shanti syndrome

Hatem El-Shanti

Journal:

European Journal of Pediatrics

Année:

2004

Langue:

english

Fichier:

PDF, 129 KB

english, 2004

16

10.1038/12699

Warman, Matthew L., Hurvitz, Jennifer R., Suwairi, Wafaa M., Van Hul, Wim, El-Shanti, Hatem, Superti-Furga, Andrea, Roudier, Jean, Holderbaum, Daniel, Pauli, Richard M., Herd, J. Kenneth, Hul, Els Van

Journal:

Nature Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 318 KB

english, 1999

17

Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene

El-Shanti, Hatem, Murray, Jeffrey C, Semina, Elena V, Beutow, Kenneth H, Scherpbier, Titia, Al-Alami, Jamil

Journal:

European Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 322 KB

english, 1998

18

Familial disorder of sex determination in seven individuals from three related sibships

Jarrah, Nadim, El-Shanti, Hatem, Khier, Ahmad, Obeidat, Fatima Nouri, Haddidi, Azmi, Ajlouni, Kamel

Journal:

European Journal of Pediatrics

Année:

2000

Langue:

english

Fichier:

PDF, 151 KB

english, 2000

19

Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome

El-Shanti, Hatem, Ahmad, Mojali, Ajlouni, Kamel

Journal:

European Journal of Pediatrics

Année:

2003

Langue:

english

Fichier:

PDF, 197 KB

english, 2003

20

Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation

Al-Sheyyab, Mahmoud, Jarrah, Nadim, Younis, Enas, Shennak, Mustafa M., Hadidi, Azmi, Awidi, Abdulla, El-Shanti, Hatem, Ajlouni, Kamel

Journal:

European Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 144 KB

english, 2001

21

The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review

Hasan A. Majeed,Mosleh Al-Tarawna,Hatem El-Shanti…

Journal:

European Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 137 KB

english, 2001

22

A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis

Dina Ahram, T. Shawn Sato, Abdulghani Kohilan, Marwan Tayeh, Shan Chen, Suzanne Leal, Mahmoud Al-Salem, Hatem El-Shanti

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 510 KB

english, 2009

23

A distinct autosomal recessive ataxia maps to chromosome 12in an inbred family from Jordan

Hatem El-Shanti, Azhar Daoud, Ammar A. Sadoon, Suzanne M. Leal, Shan Chen, Kwanghyuk Lee, Ronald Spiegel

Journal:

Brain and Development

Année:

2006

Langue:

english

Fichier:

PDF, 216 KB

english, 2006

24

The Spectrum of Familial Mediterranean Fever Gene Mutations in Arabs: Report of a Large Series

Hasan A. Majeed, Mohammed El-Khateeb, Hatem El-Shanti, Zaid Abu Rabaiha, Marwan Tayeh, Dana Najib

Journal:

Seminars in Arthritis and Rheumatism

Année:

2005

Langue:

english

Fichier:

PDF, 103 KB

english, 2005

25

A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis

Polly J. Ferguson, Xinyu Bing, Mohammed A. Vasef, Luis A. Ochoa, Amar Mahgoub, Thomas J. Waldschmidt, Lorraine T. Tygrett, Annette J. Schlueter, Hatem El-Shanti

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 449 KB

english, 2006

26

Transient improvement of congenital lactic acidosis in a male infant with pyruvate decarboxylase deficiency treated with dichloroacetate

Peter P. Tóth, Hatem El-Shanti, Sandra Eivins, William J. Rhead, Jonathan M. Klein

Journal:

The Journal of Pediatrics

Année:

1993

Langue:

english

Fichier:

PDF, 355 KB

english, 1993

27

Consanguinity: implications for practice, research, and policy

Ahmad S Teebi, Hatem I El-Shanti

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 42 KB

english, 2006

28

Familial Mediterranean fever in Arabs

Hatem El-Shanti, Hasan Abdel Majeed, Mohammed El-Khateeb

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 128 KB

english, 2006

29

A clinical study of a large inbred kindred with pure familial spastic paraplegia

Hatem E. El-Shanti, Azhar S. Daoud, Anwar Batieha

Journal:

Brain and Development

Année:

1999

Langue:

english

Fichier:

PDF, 71 KB

english, 1999

30

Homozygosity Mapping Identifies an Additional Locus for Wolfram Syndrome on Chromosome 4q

Hatem El-Shanti, Andrew C. Lidral, Nadim Jarrah, Lawrence Druhan, Kamel Ajlouni

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2000

31

Homozygosity Mapping Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3

Kun Wang, Elizabeth W. Pugh, Shari Griffen, Kimberly F. Doheny, Wedad Z. Mostafa, Mustafa M. al-Aboosi, Hatem el-Shanti, Jane Gitschier

Journal:

The American Journal of Human Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 1.36 MB

english, 2001

32

A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2

Sami Amr, Cindy Heisey, Min Zhang, Xia-Juan Xia, Kathryn H. Shows, Kamel Ajlouni, Arti Pandya, Leslie S. Satin, Hatem El-Shanti, Rita Shiang

Journal:

The American Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 3.63 MB

english, 2007

33

THE EFFECT OF TRIFLUOPERAZINE ON THE GENOTOXICITY OF BLEOMYCIN IN CULTURED HUMAN LYMPHOCYTES

Sadiq, May F., Sadiq, Fouad George, Khabour, Omar F., El-Shanti, Hatem E., Samawi, Hani M.

Journal:

Drug and Chemical Toxicology

Année:

2000

Langue:

english

Fichier:

PDF, 112 KB

english, 2000

34

Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual features

Al-Sarraj, Yasser, Al-Khair, Hakam Abu, Taha, Rowaida Ziad, Khattab, Namat, El Sayed, Zakaria H., Elhusein, Bushra, El-Shanti, Hatem

Journal:

Clinical Case Reports

Année:

2014

Langue:

english

Fichier:

PDF, 917 KB

english, 2014

35

Fine Mapping of Progressive Pseudorheumatoid Dysplasia: A Tool for Heterozygote Identification

ALKBATEEB, ASEM, AL-ALAMI, JAMIL, LEAL, SUZANNE M., EL-SHANTI, HATEM

Journal:

Genetic Testing

Année:

1999

Langue:

english

Fichier:

PDF, 724 KB

english, 1999

36

Overlap of Familial Mediterranean Fever and Hyper-IgD Syndrome in an Arabic Kindred

Moussa, Taha, Aladbe, Buthaina, Taha, Rowaida Z., Remmers, Elaine F., El-Shanti, Hatem, Fathalla, Basil M

Journal:

Journal of Clinical Immunology

Année:

2015

Langue:

english

Fichier:

PDF, 209 KB

english, 2015

37

Raine syndrome: report of a case with hand and foot anomalies

Mahafza, Tareq, El-Shanti, Hatem, Omari, Hamzi

Journal:

Clinical Dysmorphology

Année:

2001

Langue:

english

Fichier:

PDF, 332 KB

english, 2001

38

Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report

Ulusoy, Ezgi, Karaca, Neslihan Edeer, El-Shanti, Hatem, Kilicoglu, Erhan, Aksu, Guzide, Kutukculer, Necil

Journal:

Journal of Medical Case Reports

Année:

2015

Langue:

english

Fichier:

PDF, 644 KB

english, 2015

39

Chronic Recurrent Multifocal Osteomyelitis and Deficiency of Interleukin-1–receptor Antagonist

Sakran, Waheeb, Shalev, Stavit A, Sakran, Waheeb, Shalev, Stavit A, El-Shanti, Hatem, Uziel, Yosef, Uziel, Yosef

Journal:

Pediatric Infectious Disease Journal

Année:

2013

Langue:

english

Fichier:

PDF, 159 KB

english, 2013

40

Autoinflammatory bone disorders

Ferguson, Polly J, El-Shanti, Hatem I

Journal:

Current Opinion in Rheumatology

Année:

2007

Langue:

english

Fichier:

PDF, 158 KB

english, 2007

41

Caffeine Impact on Metabolic Syndrome Components Is Modulated by a CYP1A2 Variant

Platt, Daniel E., Ghassibe-Sabbagh, Michella, Salameh, Pascale, Salloum, Angelique K., Haber, Marc, Mouzaya, Francis, Gauguier, Dominique, Al-Sarraj, Yasser, El-Shanti, Hatem, Zalloua, Pierre A., Abch

Journal:

Annals of Nutrition & Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 151 KB

english, 2015

42

[Handbook of Clinical Neurophysiology] Clinical Neurophysiology of Motor Neuron Diseases Volume 4 || Hereditary spastic paraplegia

El-Shanti, Hatem

Année:

2004

Langue:

english

Fichier:

PDF, 223 KB

english, 2004

43

The M694I/M694I genotype: A genetic risk factor of AA-amyloidosis in a group of Algerian patients with familial Mediterranean fever

Ait-Idir, Djouher, Djerdjouri, Bahia, Bouldjennet, Faiza, Taha, Rowaida Z., El-Shanti, Hatem, Sari-Hamidou, Rawda, Khellaf, Ghalia, Benmansour, Mustapha, Benabadji, Mohamed, Haddoum, Farid

Journal:

European Journal of Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 411 KB

english, 2017

44

Type II diabetes mellitus and hyperhomocysteinemia: a complex interaction

Platt, Daniel E., Hariri, Essa, Salameh, Pascale, Merhi, Mahmoud, Sabbah, Nada, Helou, Mariana, Mouzaya, Francis, Nemer, Rita, Al-Sarraj, Yasser, El-Shanti, Hatem, Abchee, Antoine B., Zalloua, Pierre

Journal:

Diabetology and Metabolic Syndrome

Année:

2017

Langue:

english

Fichier:

PDF, 771 KB

english, 2017

45

Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder

Ahram, Dina F., Stambouli, Danae, Syrogianni, Aleksandra, Al-Sarraj, Yasser, Gerou, Spyridon, El-Shanti, Hatem, Kambouris, Marios

Journal:

Clinical Case Reports

Année:

2016

Langue:

english

Fichier:

PDF, 747 KB

english, 2016

46

A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)

Al-Sarraj, Yasser, Ben-Omran, Tawfeg, Tolefat, Mohammed, Bejaoui, Yosra, El-Shanti, Hatem, Kambouris, Marios

Journal:

Journal of Inborn Errors of Metabolism & Screening

Année:

2014

Langue:

english

Fichier:

PDF, 427 KB

english, 2014

47

Molecular genetic approach to the diagnosis of a clinically equivocal retinopathy

Chini, Vasiliki, Stambouli, Danai, Nedelea, Florina Mihaela, Filipescu, George Alexandru, Mina, Diana, El-Shanti, Hatem, Kambouris, Marios

Journal:

Qatar Foundation Annual Research Forum Proceedings

Année:

2012

Langue:

english

Fichier:

PDF, 122 KB

english, 2012

48

The Impact of Genetic Diseases on Jordanians: Strategies Towards Prevention

El-Shanti, Hatem

Journal:

Journal of Biomedicine and Biotechnology

Année:

2001

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2001