R. Kariminejad

发表

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Wei Chen, Reinhard Ullmann, Dagmar Wieczorek, 2011, Nature.

Frequency of Sperm Aneuploidy in Oligoasthenoteratozoospermic (OAT) Patients by Comprehensive Chromosome Screening: A Proof of Concept

H. Gourabi, R. Kariminejad, P. Eftekhari-Yazdi, 2020, Journal of reproduction & infertility.

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

Z. Tümer, N. Tommerup, H. Ropers, 2011, Human mutation.

CLINICAL HETEROGENEITY AND CHROMOSOME BREAKAGE IN IRANIAN PATIENTS SUSPICIOUS OF FANCONI ANEMIA

H. Najmabadi, R. Kariminejad, Y. Shafeghati, 2007 .

Detection of New Translocation in Infant Twins with Concordant ALL and Discordant Outcome

R. Kariminejad, G. Bahoush, M. Vafapour, 2020, Pediatric reports.

Genotype–phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams‐Beuren syndrome

A. Saberi, M. Ghaffari, R. Kariminejad, 2018, Annals of human genetics.

Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages

K. Kahrizi, H. Najmabadi, F. Mojahedi, 2011, Archives of medical science : AMS.

New translocation in acute myeloid leukemia M4 eos

R. Kariminejad, G. Bahoush, M. Vafapour, 2020, Leukemia research reports.

Genetic investigation in a patient with Angelman Syndrome using MLPA and array CGH techniques

H. Najmabadi, Navid Almadani, F. Behjati, 2012 .

5p13 microduplication in a malformed fetus and his unaffected father

R. Hennekam, A. Kariminejad, S. Ghaderi-sohi, 2022, American journal of medical genetics. Part A.

Chromosomal aberrations in pregnancy and fetal loss: Insight on the effect of consanguinity, review of 1625 cases

H. Najmabadi, R. Kariminejad, M. Bazrgar, 2019, Molecular genetics & genomic medicine.

Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis

A. Kariminejad, K. Hosseini, R. Kariminejad, 2017, Case reports in genetics.

Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population.

A. Kariminejad, H. Najmabadi, F. Mojahedi, 2014, Archives of Iranian medicine.

Sex Chromosomal Aberration Report of the Percentage and Different Karyotypes of Sex Chromosomal Aberration Among 163444 cytogenetic Tests.

R. Kariminejad, M. Kariminejad, 2015 .

Elucidating the spectrum of α-thalassemia mutations in Iran

H. Najmabadi, Navid Almadani, C. Oberkanins, 2007 .

Elucidating the spectrum of alpha-thalassemia mutations in Iran.

H. Najmabadi, Navid Almadani, C. Oberkanins, 2007, Haematologica.

Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: phenotypic and genotypic findings.

F. Behjati, R. Kariminejad, H. Otukesh, 2013, Gene.

Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis

H. Ropers, A. Kariminejad, A. Tzschach, 2009, American journal of medical genetics. Part A.

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

T. Wieland, T. Strom, A. Schlessinger, 2014, European Journal of Human Genetics.

Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities

A. Kariminejad, H. Najmabadi, S. Ghaderi-sohi, 2021, Scientific Reports.

A Report on 167 Cases of Array-Based Comparative Genomic Hybridization: Comparison with Previous Techniques

A. Kariminejad, H. Najmabadi, F. Behjati, 2012 .

Copy Number Variations in Structural Brain Malformations

R. Kariminejad, 2012 .

Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome

H. Najmabadi, H. Ghaedi, H. Darvish, 2016, Molecular Neurobiology.

Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18

M. Okoniewski, A. Kariminejad, A. Schinzel, 2011, European Journal of Human Genetics.

Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications

H. Darvish, M. Raeisoon, F. Behjati, 2016, International journal of molecular and cellular medicine.

Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization

H. Najmabadi, F. Behjati, R. Vameghi, 2013, Indian journal of human genetics.

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.

A. Kariminejad, H. Najmabadi, Z. Chavoshzadeh, 2019, Cell journal.

Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia

S. Salipante, N. Rezaei, M. Horwitz, 2007, Human mutation.

Highly sensitive conventional PCR testing of free fetal DNA in maternal serum for non-invasive fetal sex determination

H. Najmabadi, M. Ohadi, L. A. Moheb, 2004 .

A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.

H. Ropers, A. Tzschach, K. Kahrizi, 2008, American journal of human genetics.

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations b

H. Omran, R. Wevers, A. Bertoli-Avella, 2010, Human mutation.

De-novo interstitial 2.33 Mb deletion in 8q24.3: new insights on a very rare partial monosomy syndrome.

T. Liehr, R. Kariminejad, S. Tonekaboni, 2018, Clinical dysmorphology.

11q14.1‐11q22.1 deletion in a 1‐year‐old male with minor dysmorphic features

H. Ropers, A. Kariminejad, A. Tzschach, 2010, American journal of medical genetics. Part A.

Prenatal Screening for Aneuploidies Using QF-PCR and Karyotyping: A Comprehensive Study in Iranian Population.

A. Kariminejad, H. Najmabadi, Mana M Mehrjouy, 2015, Archives of Iranian medicine.

Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy.

K. Kahrizi, H. Najmabadi, Navid Almadani, 2009, Annals of the Academy of Medicine, Singapore.

Fourteen-Year Experience of Prenatal Diagnosis of Thalassemia in Iran

H. Najmabadi, B. Modell, V. Hadavi, 2006, Public Health Genomics.

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

H. Ropers, A. Tzschach, K. Kahrizi, 2009, European Journal of Human Genetics.

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

Wei Chen, A. Tzschach, R. Ullmann, 2011, European Journal of Human Genetics.

Reply to 5q35 duplication and Hunter–McAlpine syndrome: Missing the link

A. Kariminejad, A. Tzschach, R. Kariminejad, 2010 .

Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient

M. Fardaei, R. Kariminejad, Maryam Taghdiri, 2019, Clinical case reports.

Comparison of Early and Mid-Trimester Amniocentesis in 1459 Amniotic Fluid Cultures

A. Kariminejad, F. Ramezanzadeh, R. Kariminejad, 2006 .

Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation

K. Kahrizi, H. Najmabadi, F. Sajedi, 2013, Iranian Red Crescent medical journal.

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations b

H. Omran, R. Wevers, A. Bertoli-Avella, 2010, Human mutation.

Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient

M. Fardaei, R. Kariminejad, Maryam Taghdiri, 2019, Clinical case reports.

Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.

Z. Mosayebi, M. Shirazi, L. Habibi, 2024, European journal of human genetics : EJHG.