H. El-Shanti

发表

PRICKLE1 Interaction with SYNAPSIN I Reveals a Role in Autism Spectrum Disorders

Vinit B. Mahajan, J. Robert Manak, Heather C. Mefford, 2013, PloS one.

Chronic recurrent multifocal osteomyelitis: a concise review and genetic update.

P. Ferguson, H. El-Shanti, 2007, Clinical orthopaedics and related research.

Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features

P. Ferguson, H. El-Shanti, 2021, Biomolecules.

Autoinflammatory bone disorders

P. Ferguson, H. El-Shanti, 2007, Current opinion in rheumatology.

On mice and men: An autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia.

N. Almasri, H. El-Shanti, H. El-Shanti, 2000, The Journal of pediatrics.

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

P. Ferguson, T. Waldschmidt, H. El-Shanti, 2006, Bone.

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

P. Ferguson, K. Al-Saad, H. El-Shanti, 2007, Arthritis and rheumatism.

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

J. Rosenfeld, L. Shaffer, M. Scott, 2011, American journal of human genetics.

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

H. El-Shanti, B. Djerdjouri, D. Ait-Idir, 2011, Rheumatology.

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

P. Gregersen, P. Babyn, E. Remmers, 2009, The New England journal of medicine.

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

M. Tayeh, M. El-Khateeb, H. El-Shanti, 2005, Seminars in arthritis and rheumatism.

Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population.

M. Tayeh, H. El-Shanti, Marwan K Tayeh, 2003, Saudi medical journal.

Genotype/phenotype correlations in Arab patients with familial Mediterranean fever.

H. El-Shanti, H. A. Majeed, Z. A. Rabaiha, 2002, Seminars in arthritis and rheumatism.

Familial Mediterranean fever in children: the expanded clinical profile.

N. Khuri-Bulos, H. El-Shanti, H. A. Majeed, 1999, QJM : monthly journal of the Association of Physicians.

Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources

A. Masri, H. El-Shanti, Liyana Oweis, 2022, Clinical Neurology and Neurosurgery.

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

P. Curmi, R. Maroun, T. Ben-Omran, 2014, Orphanet Journal of Rare Diseases.

A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.

Michael P. Brown, P. Ferguson, K. Schooley, 2011, Arthritis and rheumatism.

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

M. Ahmad, K. Ajlouni, H. El-Shanti, 2002, European Journal of Pediatrics.

Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

G. Carvill, I. Scheffer, H. Mefford, 2015, PLoS genetics.

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

J. Klein, P. Toth, W. Rhead, 1993, The Journal of pediatrics.

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

S. Leal, R. Spiegel, Kwanghyuk Lee, 2006, Brain and Development.

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

E. Remmers, Rowaida Z Taha, H. El-Shanti, 2015, Journal of Clinical Immunology.

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

P. Ferguson, Leah S. Muhle, M. Lokuta, 2008, Arthritis and rheumatism.

A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome.

M. Kambouris, H. El-Shanti, B. Fathalla, 2013, Clinical and experimental rheumatology.

P02-006 - A novel PSTPIP1 mutation in PAPA syndrome

M. Kambouris, H. El-Shanti, B. Fathalla, 2013, Pediatric Rheumatology.

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

N. Kutukculer, G. Aksu, H. El-Shanti, 2015, Journal of Medical Case Reports.

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

D. Ahram, S. Gerou, M. Kambouris, 2016, Clinical case reports.

Epidermal Nevus Syndrome: Subgroup With Neuronal Migration Defects

W. Bell, H. El-Shanti, M. Waziri, 1992, Journal of child neurology.

Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3.

K. Doheny, E. Pugh, J. Gitschier, 2001, American journal of human genetics.

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)

S. Leal, A. Munnich, P. Ferguson, 2005, Journal of Medical Genetics.

Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction

T. Wassink, A. Bassuk, D. Mohapatra, 2013, Molecular Psychiatry.

Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families

O. Albagha, Eman K. Al-Dous, D. Ahram, 2021, Genes.

Fine mapping of progressive pseudorheumatoid dysplasia: a tool for heterozygote identification.

S. Leal, H. El-Shanti, A. Alkhateeb, 1999, Genetic testing.

A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan

V. Sheffield, E. Stone, K. Ajlouni, 1999, Journal of medical genetics.

Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region.

S. Patil, H. McDermid, J. Murray, 1995, American journal of human genetics.

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

David Comas, Leena Peltonen, Leif Groop, 2008, American journal of human genetics.

Hereditary spastic paraplegia

H. El-Shanti, 2004 .

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

D. Gauguier, J. Romanos, D. Platt, 2014, Scientific Reports.

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

K. Ajlouni, L. Druhan, A. Lidral, 2000, American journal of human genetics.

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

D. Ahram, M. Kambouris, Rowaida Z Taha, 2017, Clinical case reports.

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

H. Waterham, C. Sarrauste de Menthière, S. Lesage, 2008, Human mutation.

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

M. Scott, J. Axelrod, A. Bassuk, 2008, American journal of human genetics.

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

H. El-Shanti, H. A. Majeed, Mosleh Al-Tarawna, 2001, European Journal of Pediatrics.

Majeed Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

P. Ferguson, H. El-Shanti, 1993 .

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

C. Bodemer, P. Houillier, P. Curmi, 2017, Genetics in Medicine.

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

S. Leal, D. Ahram, M. Tayeh, 2009, American journal of human genetics.

Citation classics in chronic granulomatous disease: a bibliometric analysis

H. El-Shanti, F. Bakri, M. Adwan, 2017 .

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

S. Antonarakis, J. Hunter, Yaping Yang, 2018, Human mutation.

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

Bushra Elhusein, Namat Khattab, Rowaida Z Taha, 2014, Clinical case reports.

Familial Mediterranean Fever and Other Autoinflammatory Disorders

H. El-Shanti, H. A. Majeed, 2010 .

Familial Mediterranean fever in Arabs

M. El-Khateeb, H. El-Shanti, H. A. Majeed, 2006, The Lancet.

Linkage analysis of a large inbred family with congenital megaloblastic anemia.

M. Tayeh, H. El-Shanti, J. Al-Alami, 2002, Saudi medical journal.

Familial mediterranean Fever and renal disease.

H. El-Shanti, 2003, Saudi Journal of Kidney Diseases and Transplantation.

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

E. Remmers, Rowaida Z Taha, H. El-Shanti, 2015, Journal of Clinical Immunology.

P02-005 - Overlap of FMF and HIDS in one Arabic family

H. El-Shanti, T. Moussa, B. Fathalla, 2013, Pediatric Rheumatology.

Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction

T. Wassink, A. Bassuk, D. Mohapatra, 2014, Molecular Psychiatry.

Erratum: Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction (Molecular Psychiatry (2013) 18 (1077-1089) DOI: 10.1038/mp.2013.71)

T. Wassink, A. Bassuk, D. Mohapatra, 2014 .

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

M. Zhang, A. Pandya, R. Shiang, 2007, American journal of human genetics.

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

L. Shriberg, K. Jakielski, H. El-Shanti, 2008, American journal of medical genetics. Part A.

Type II diabetes mellitus and hyperhomocysteinemia: a complex interaction

D. Platt, P. Zalloua, P. Salameh, 2017, Diabetology & Metabolic Syndrome.

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

D. Platt, Marc Haber, P. Zalloua, 2014, Diabetology & Metabolic Syndrome.

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

T. Ben-Omran, M. Kambouris, H. El-Shanti, 2014 .

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

D. Gauguier, D. Platt, Marc Haber, 2015, Annals of Nutrition and Metabolism.

TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis

B. Darbro, P. Romitti, Anthony M. Musolf, 2022, Genes.

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

S. Shalev, Y. Uziel, W. Sakran, 2013, The Pediatric infectious disease journal.

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

J. Mullikin, A. Bassuk, W. Gahl, 2016, Annals of clinical and translational neurology.

A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant

A. Garg, K. Ajlouni, M. El-Khateeb, 2020, Journal of the Endocrine Society.

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

S. Leal, Shaheen S. Sikandar, A. Bhatti, 2006, Journal of Molecular Medicine.

Congenital glucose‐galactose malabsorption: A case report with a novel SLC5A1 mutation

H. El-Shanti, J. Albaramki, Manar Al-lawama, 2018, Clinical case reports.

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

Rowaida Z Taha, H. El-Shanti, B. Djerdjouri, 2017, European journal of medical genetics.

The genetic landscape of autism spectrum disorder in the Middle Eastern population

O. Albagha, Namat Khattab, Hibah Shaath, 2024, Frontiers in genetics.

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

S. Leal, D. Ahram, H. El-Shanti, 2009, American journal of human genetics.