List of works - Hatem El-shanti

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

scientific article published in October 1999

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

scientific article published on 10 January 2006

A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2

scientific article

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

scientific article

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

scientific article published on 24 August 2005

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

scientific article published on March 2007

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

scientific article published on 28 November 2002

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

scientific article

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

scientific article published in April 2001

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

scientific article published on 01 September 2008

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

scientific article published on 21 November 2015

Chronic recurrent multifocal osteomyelitis and deficiency of interleukin-1-receptor antagonist

scientific article published in January 2013

Consanguinity: implications for practice, research, and policy

scientific article published on 01 March 2006

Effect of Desferrioxamine in Acute Haemolytic Anaemia of Glucose-6-Phosphate Dehydrogenase Deficiency

scientific article published on 01 January 1999

Epidermal nevus syndrome: subgroup with neuronal migration defects

scientific article published on January 1, 1992

Familial mediterranean fever in Arabs.

scientific article

Further delineation of El-Shanti syndrome

scientific article published in December 2004

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

scientific article published on 01 September 1999

Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q

scientific article

Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture

scientific article published in January 2008

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

scientific article published on 23 June 2015

Multivariate epidemiologic analysis of type 2 diabetes mellitus risks in the Lebanese population

scientific article

Mutations in prickle orthologs cause seizures in flies, mice, and humans

scientific article

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

scientific article

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

scientific article

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

scientific article published in October 2008

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.

scientific article

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders

scientific article

Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population

scientific article published on 22 October 2011

T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility

scientific article published on 08 December 2014

The Impact of Genetic Diseases on Jordanians: Strategies Towards Prevention

scientific article

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

scientific article published in December 1995

The effect of trifluoperazine on the genotoxicity of bleomycin in cultured human lymphocytes

scientific article published on 01 May 2000

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

scientific article

The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series.

scientific article

Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan

scientific article published in May 2002

List of works by Hatem El-shanti

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

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

A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

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

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

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

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

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

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

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

Chronic recurrent multifocal osteomyelitis and deficiency of interleukin-1-receptor antagonist

Consanguinity: implications for practice, research, and policy

Effect of Desferrioxamine in Acute Haemolytic Anaemia of Glucose-6-Phosphate Dehydrogenase Deficiency

Epidermal nevus syndrome: subgroup with neuronal migration defects

Familial mediterranean fever in Arabs.

Further delineation of El-Shanti syndrome

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

Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q

Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture

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

Multivariate epidemiologic analysis of type 2 diabetes mellitus risks in the Lebanese population

Mutations in prickle orthologs cause seizures in flies, mice, and humans

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

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

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

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders

Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population

T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility

The Impact of Genetic Diseases on Jordanians: Strategies Towards Prevention

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

The effect of trifluoperazine on the genotoxicity of bleomycin in cultured human lymphocytes

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

The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series.

Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan