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Hatem El-Shanti

Research Profile

Geographic Areas

Jordan

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Physiology

Living Beings

Disorders

Genes & Molecular Sequences

Recessive Genes

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Publications

TOP 3
Waheeb Sakran; Waheeb Sakran; Stavit A Shalev; Stavit A Shalev; Hatem El-Shanti; Yosef Uziel; Yosef Uziel
Chronic recurrent multifocal osteomyelitis and deficiency of interleukin-1-receptor antagonist.
Adriana A Jesus; Peter W Kim; Mazen Osman; Tuyet-Hang Pham; Blair R Renshaw; Ken Schooley; Clovis A Silva; John E Sims; Barbara Yang; Jamil Al-Alami; Asma Al-Dosari; Débora R Bertola; Michael Brown; Magda M S Carneiro-Sampaio; Polly J Ferguson; Massimo Gadina; Raphaela Goldbach-Mansky; Hatem El-Shanti
A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.
Djouher Ait-Idir; Bahia Djerdjouri; Abdulghani Khilan; Hatem El-Shanti
Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population.

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All Publications

2013: Waheeb Sakran; Waheeb Sakran; Stavit A Shalev; Stavit A Shalev; Hatem El-Shanti; Yosef Uziel; Yosef Uziel
Chronic recurrent multifocal osteomyelitis and deficiency of interleukin-1-receptor antagonist.
The Pediatric infectious disease journal 2013;32(1):94.
2011: Adriana A Jesus; Peter W Kim; Mazen Osman; Tuyet-Hang Pham; Blair R Renshaw; Ken Schooley; Clovis A Silva; John E Sims; Barbara Yang; Jamil Al-Alami; Asma Al-Dosari; Débora R Bertola; Michael Brown; Magda M S Carneiro-Sampaio; Polly J Ferguson; Massimo Gadina; Raphaela Goldbach-Mansky; Hatem El-Shanti
A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.
Arthritis and rheumatism 2011;63(12):4007-17.
2011: Djouher Ait-Idir; Bahia Djerdjouri; Abdulghani Khilan; Hatem El-Shanti
Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population.
Rheumatology (Oxford, England) 2011;50(12):2306-10.
2009: Dina Ahram; T Shawn Sato; Abdulghani Kohilan; Marwan Tayeh; Shan Chen; Suzanne Leal; Mahmoud Al-Salem; Hatem El-Shanti
A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.
American journal of human genetics 2009;84(2):274-8.
2008: Alexander G Bassuk; Robyn H Wallace; Aimee Buhr; Andrew R Buller; Zaid Afawi; Masahito Shimojo; Shingo Miyata; Shan Chen; Pedro Gonzalez-Alegre; Hilary L Griesbach; Shu Wu; Marcus Nashelsky; Eszter K Vladar; Dragana Antic; Polly J Ferguson; Sebahattin Cirak; Thomas Voit; Matthew P Scott; Jeffrey D Axelrod; Christina Gurnett; Azhar Daoud; Sara Kivity; Miriam Y Neufeld; Aziz Mazarib; Rachel Straussberg; Simri Walid; Amos D Korczyn; Diane C Slusarski; Samuel F Berkovic; Hatem El-Shanti
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.
American journal of human genetics 2008;83(5):572-81.
2008: Polly J Ferguson; Mary A Lokuta; Hatem El-Shanti; Leah Muhle; Xinyu Bing; Anna Huttenlocher
Neutrophil dysfunction in a family with a SAPHO syndrome-like phenotype.
Arthritis and rheumatism 2008;58(10):3264-9.
2008: Lawrence D Shriberg; Kathy J Jakielski; Hatem El-Shanti
Breakpoint localization using array-CGH in three siblings with an unbalanced 4q;16q translocation and childhood apraxia of speech (CAS).
American journal of medical genetics. Part A 2008;146A(17):2227-33.
2008: 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
The infevers autoinflammatory mutation online registry: update with new genes and functions.
Human mutation 2008;29(6):803-8.
2008: 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; Sirajedin Natah; David Comas; S Qasim Mehdi; Leif Groop; Else Marie Vestergaard; Faiqa Imtiaz; Mohamed S Rashed; Brian Meyer; Jesper T Troelsen; Leena Peltonen
Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture.
American journal of human genetics 2008;82(1):57-72.
2007: Sami Amr; Cindy Heisey; Min Zhang; Xia Juan Xia; Kathryn H Shows; Kamel M Ajlouni; Arti Pandya; Leslie S Satin; Hatem El-Shanti; Rita Shiang
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.
American journal of human genetics 2007;81(4):673-83.
2007: Polly J Ferguson; Hatem El-Shanti
Autoinflammatory bone disorders.
Current opinion in rheumatology 2007;19(5):492-8.
2007: Hatem El-Shanti; Polly J Ferguson
Chronic recurrent multifocal osteomyelitis: a concise review and genetic update.
Clinical orthopaedics and related research 2007;462():11-9.
2007: Zakiya S Al-Mosawi; Khulood K Al-Saad; Roya Ijadi-Maghsoodi; Hatem El-Shanti; Polly J Ferguson
A splice site mutation confirms the role of LPIN2 in Majeed syndrome.
Arthritis and rheumatism 2007;56(3):960-4.
2006: Hatem El-Shanti; Azhar Daoud; Ammar A Sadoon; Suzanne M Leal; Shan Chen; Kwanghyuk Lee; Ronald Spiegel
A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.
Brain & development 2006;28(6):353-7.
2006: Hatem El-Shanti; Hasan A Majeed; Mohammed El-Khateeb
Familial mediterranean fever in Arabs.
Lancet 2006;367(9515):1016-24.
2006: Ahmad S Teebi; Hatem El-Shanti
Consanguinity: implications for practice, research, and policy.
Lancet 2006;367(9515):970-1.
2006: 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
Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.
Journal of molecular medicine (Berlin, Germany) 2006;84(3):226-31.
2006: 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
A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis.
Bone 2006;38(1):41-7.
2005: Jamil R Al-Alami; Stephan M Tanner; Marwan K Tayeh; Albert de La Chapelle; Hatem El-Shanti
Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.
Saudi medical journal 2005;26(7):1061-4.
2005: Polly J Ferguson; S Chen; Marwan K Tayeh; L Ochoa; S M Leal; A Pelet; A Munnich; Stanislas LYONNET; Hasan A Majeed; Hatem El-Shanti
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).
Journal of medical genetics 2005;42(7):551-7.
2005: Hasan A Majeed; Mohammed El-Khateeb; Hatem El-Shanti; Zaid Abu Rabaiha; Marwan K Tayeh; Dana Najib
The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series.
Seminars in arthritis and rheumatism 2005;34(6):813-8.
2004: Hatem El-Shanti
Further delineation of El-Shanti syndrome.
European journal of pediatrics 2004;163(12):761-2.
2004: Nadima S Shegem; Abeer M Alsheek Nasir; Anwar M Batieha; Hatem El-Shanti; Kamel M Ajlouni
Effects of short term metformin administration on androgens in diabetic men.
Saudi medical journal 2004;25(1):75-8.
2003: Jamil R Al-Alami; Marwan K Tayeh; Dana A Najib; Ziad A Abu-Rubaiha; Hasan A Majeed; Mohammed S Al-Khateeb; Hatem El-Shanti
Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population.
Saudi medical journal 2003;24(10):1055-9.
2003: Hatem El-Shanti
Familial mediterranean Fever and renal disease.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 2003;14(3):378-85.
2003: Azhar Daoud; Anwar M Batieha; M Bashtawi; Hatem El-Shanti
Risk factors for childhood epilepsy: a case-control study from Irbid, Jordan.
Seizure : the journal of the British Epilepsy Association 2003;12(3):171-4.
2003: A-K Jbour; Ammar F Mubaidin; M Till; Hatem El-Shanti; Azmi Hadidi; Kamel M Ajlouni
Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?
Journal of medical genetics 2003;40(1):e2.
2003: Hatem El-Shanti; Mojali Ahmad; Kamel M Ajlouni
Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome.
European journal of pediatrics 2003;162(1):36-40.
2002: Hatem El-Shanti; Jamil R Al-Alami
The pattern of peripheral blood chromosomal abnormalities in Northern Jordan.
Saudi medical journal 2002;23(12):1552-4.
2002: Jamil R Al-Alami; Marwan K Tayeh; Mahmoud Y Al-Sheyyab; Hatem El-Shanti
Linkage analysis of a large inbred family with congenital megaloblastic anemia.
Saudi medical journal 2002;23(10):1251-6.
2002: Hasan A Majeed; Hatem El-Shanti; Mohammed S Al-Khateeb; Z Abu Rabaiha
Genotype/phenotype correlations in Arab patients with familial Mediterranean fever.
Seminars in arthritis and rheumatism 2002;31(6):371-6.
2002: Kamel M Ajlouni; Nadim S Jarrah; Mohammed El-Khateeb; Mohamed El-Zaheri; Hatem El-Shanti; Andrew Lidral
Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan.
American journal of medical genetics 2002;115(1):61-5.
2002: Dana Hiyasat; Munir A Dehyyat; Saleh Ajlouni; Ammar F Mubaidin; Maha Till; Azmi Hadidi; Hatem El-Shanti; Kamel M Ajlouni
Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome".
European journal of pediatrics 2002;161(3):170-2.
2002: Tareq M Al-Jaberi; Hatem El-Shanti
Diversity in polyp pathology and distribution of Familial Juvenile Polyposis Syndrome.
Saudi medical journal 2002;23(3):328-31.
2001: Hasan A Majeed; M Al-Tarawna; Hatem El-Shanti; B Kamel; F Al-Khalaileh
The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review.
European journal of pediatrics 2001;160(12):705-10.
2001: Mahmoud Y Al-Sheyyab; Nadim S Jarrah; E Younis; MM Shennak; Azmi Hadidi; abdalla awidi; Hatem El-Shanti; Kamel M Ajlouni
Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation.
European journal of pediatrics 2001;160(4):243-6.
2000: Nadim S Jarrah; Hatem El-Shanti; A Khier; F N Obeidat; A Haddidi; Kamel M Ajlouni
Familial disorder of sex determination in seven individuals from three related sibships.
European journal of pediatrics 2000;159(12):912-8.
2000: Hasan A Majeed; Hatem El-Shanti; Hala Saleh Al-Rimawi; N Al-Masri
On mice and men: An autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia.
The Journal of pediatrics 2000;137(3):441-2.
2000: Hatem El-Shanti; A C Lidral; Nadim S Jarrah; L Druhan; Kamel M Ajlouni
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.
American journal of human genetics 2000;66(4):1229-36.
2000: Hatem El-Shanti; M al-Lahham; Anwar M Batieha
Craniofacial anthropometric measurements in a population of normal Jordanian newborns.
Le Journal médical libanais. The Lebanese medical journal 2000;48(1):23-8.
2000: Mahmoud Y Al-Sheyyab; Azhar Daoud; Hatem El-Shanti
Chediak-Higashi syndrome: a report of eight cases from three families.
Indian pediatrics 2000;37(1):69-75.
1999: Hatem El-Shanti; M Al-Salem; M El-Najjar; Kamel M Ajlouni; J Beck; V C Sheffiled; E M Stone
A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan.
Journal of medical genetics 1999;36(11):862-5.
1999: Mahmoud Y Al-Sheyyab; Anwar M Batieha; Hatem El-Shanti; Azhar Daoud
Henoch-Schonlein purpura and streptococcal infection: a prospective case-control study.
Annals of tropical paediatrics 1999;19(3):253-5.
1999: J R Hurvitz; WM Suwairi; Wim Van Hul; Hatem El-Shanti; andrea superti-furga; Jean Roudier; D Holderbaum; Richard M Pauli; J K Herd; Els Van Hul; H Rezai-Delui; E Legius; M Le Merrer; Jamil R Al-Alami; Sultan A Bahabri; Matthew L Warman
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
Nature genetics 1999;23(1):94-8.
1999: Hasan A Majeed; M Rawashdeh; Hatem El-Shanti; HI Qubain; N Khuri-Bulos; HM Shahin
Familial Mediterranean fever in children: the expanded clinical profile.
QJM : monthly journal of the Association of Physicians 1999;92(6):309-18.
1999: Nadim S Jarrah; Hatem El-Shanti; MM Shennak; Kamel M Ajlouni
A case of Wolfram syndrome in triplets: Some newly recognized features.
Annals of Saudi medicine 1999;19(2):132-4.
1999: A Alkhateeb; Jamil R Al-Alami; S M Leal; Hatem El-Shanti; A Alkbateeb
Fine mapping of progressive pseudorheumatoid dysplasia: a tool for heterozygote identification.
Genetic testing 1999;3(4):329-33.
1999: Hala Saleh Al-Rimawi; Mahmoud Y Al-Sheyyab; Anwar M Batieha; Hatem El-Shanti; F Abuekteish
Effect of desferrioxamine in acute haemolytic anaemia of glucose-6-phosphate dehydrogenase deficiency.
Acta haematologica 1999;101(3):145-8.
1998: Hatem El-Shanti; J C Murray; E V Semina; K H Beutow; T Scherpbier; Jamil R Al-Alami
Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene.
European journal of human genetics : EJHG 1998;6(3):251-6.
1998: Mahmoud Y Al-Sheyyab; Hatem El-Shanti; N Ghariebeh; F Ektiesh; Azhar Daoud
Fanconi's anemia and primary hypothyroidism.
Annals of Saudi medicine 1998;18(1):58-9.
1997: Hatem El-Shanti; M Khasawneh; D Hulsberg; H Major; S Patil
A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype.
Annales de génétique 1997;40(3):175-80.
1997: Azhar Daoud; Mahmoud Y Al-Sheyyab; A K al-Qudah; N Khuri-Bulos; Hatem El-Shanti
An outbreak of poliomyelitis in Jordan: clinical and epidemiologic observations.
Indian pediatrics 1997;34(1):51-4.
1996: Azhar Daoud; Mahmoud Y Al-Sheyyab; F Abu-Ekteish; A Obeidat; A A Ali; Hatem El-Shanti
Neonatal meningitis in northern Jordan.
Journal of tropical pediatrics 1996;42(5):267-70.
1996: Mahmoud Y Al-Sheyyab; Hatem El-Shanti; S Ajlouni; Anwar M Batieha; Azhar Daoud
Henoch-Schonlein purpura: clinical experience and contemplations on a streptococcal association.
Journal of tropical pediatrics 1996;42(4):200-3.
1996: Mahmoud Y Al-Sheyyab; Hatem El-Shanti; D Todd; AA Shurman
Autosomal recessive lamellar ichthyosis and acute lymphoblastic leukemia.
European journal of human genetics : EJHG 1996;4(2):105-7.
1995: Mahmoud Y Al-Sheyyab; Hatem El-Shanti; S Ajlouni; D Sawalha; Azhar Daoud
The clinical spectrum of Henoch-Schönlein purpura in infants and young children.
European journal of pediatrics 1995;154(12):969-72.