سامانه دانش گستر بركت - حوزه علوم انساني. حسين نجم آبادي

1

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

H. Najmabadi , M. S. Hildebrand , A. E. Shearer , M. Bahlo , K. R. Smith , C. J. Bromhead , P. J. Lockhart , R. J. Leventer , G. McGillivray , D. J. Amor , R. J. Smith

Annali Italiani Di Chirurgia 2011؛ 9()

2

A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function

H. Najmabadi , R. J. H. Smith , R. Banan , M. Schwander , A. F. Ryan , U. Muller , A. Sczaniecka , N. Grillet , J. S. Bailey , M. Avenarius , B. M. Steffy , G. C. Federe , E. A. Lagler , R. Hice , L. Grabowski-Boase , E. M. Keithley , G. D. Housley , T. Wiltshire , L. M. Tarantino

Journal of Neuroscience 2007؛ 9()

3	C677T methylentetrahydrofulate reductase and angiotensin converting enzyme gene polymorphisms in patients with Alzheimer's disease in Iranian population H. Najmabadi , M. Noroozian , S. B. Hashemi , M. R. Keikhaee Neurochemical Research 2006؛ 8()

4

Elucidating the spectrum of alpha-thalassemia mutations in Iran

H. Najmabadi , A. Azarkeivan , V. Hadavi , C. Oberkanins , H. Y. Law , M. Jafroodi , R. Kariminejad , A. Tamaddoni , A. H. Taromchi , M. Malekpoui , B. Gholami , N. Almadani , F. Afroozan , F. Sahebjam , P. Pajouh , M. H. Kariminejad , H. Puchringer

Haematologica-the Hematology Journal 2007؛ 7()

5	Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance H. Najmabadi , B. Broumand , A. Bidari , B. Ghavidel-Parsa , B. Ghalehbaghi , E. Talachian , M. Haghighat-Shoar Dermatology 2010؛ 6()

6

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-beta-Binding Protein, in Nonsyndromic Autosornal-Recessive Mental Retardation

H. Najmabadi , A. Mir , K. Kahrizi , H. H. Ropers , A. Tzschach , A. W. Kuss , M. Azam , A. Noor , L. Kaufman , M. M. Motazacker , T. Jamil , M. A. Rafiq , R. Weksberg , T. Nasr , F. Naeem , G. E. Ishak , D. Doherty , A. J. Barkovich , M. Ayub , J. B. Vincent

American Journal of Human Genetics 2009؛ 6()

7

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment

H. Najmabadi , M. Taghdiri , F. Azizi , A. Dehghani , M. Mohseni , K. Kahrizi , P. Jamali , C. Nishimura , N. Bazazzadegan , R. J. H. Smith , S. M. Fischer , M. Sayfati

European Journal of Pediatrics 2009؛ 6()

8	LRP6 mutation in a family with early coronary disease and metabolic risk factors H. Najmabadi , A. Mani , J. Radhakrishnan , C. Nelson-Williams , R. P. Lifton , H. Wang , M. A. Mani , K. S. Carew , S. Mane , D. Wu Science 2007؛ 5816()

9

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

H. Najmabadi , A. Najafi , S. Nafissi , M. Hanna , Y. Nilipour , A. Kariminejad , B. Bozorgmehr , V. Guergueltcheva , J. Muller , M. Dusl , J. Senderek , A. Oldfors , C. Lindbergh , S. Maxwell , J. Colomer , C. Mallebrera , A. Nascimento , J. Vilchez , N. Muelas , J. Kirschner , C. Rodolico , J. Sieb , B. Schlotter , B. Schoser , R. Herrmann , T. Voit , O. Steinlein , A. Urtizberea , D. Soler , F. Muntoni , A. Chaouch , V. Straub , K. Bushby , J. Palace , D. Beeson , A. Abicht , H. Lochmuller

Annals of Saudi Medicine 2012؛ 5()

10

Homozygous THAP1 Mutations as Cause of Early-Onset Generalized Dystonia

H. Najmabadi , I. Bahman , C. Klein , K. Shafiee , M. A. Shafa , S. A. Schneider , A. Ramirez , F. J. Kaiser , A. Erogullari , N. Bruggemann , S. Winkler , A. Osmanovic , K. P. Bhatia , K. Lohmann

Pathophysiology 2011؛ 5()

11	Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran H. Najmabadi , M. Farhadi , A. Daneshi , H. Emamdjomeh , S. Hassanzadeh , S. Arzhangi , S. H. Mohammadi Journal of Cell Biology 2011؛ 5()

12

Two Iranian Families With a Novel Mutation in GJB2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

H. Najmabadi , M. Farhadi , A. Daneshi , G. Van Camp , K. Kahrizi , S. S. Abedini , C. Nishimura , N. Bazazzadegan , R. J. H. Smith , M. Sobhani , M. R. Avenarius , N. C. Meyer , N. Hilgert , A. M. Sheffield , F. Habibi

Allergology International 2011؛ 5()

13

Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions

H. Najmabadi , C. Oberkanins , H. Y. Law , E. Baysal , A. Taher , H. Puehringer , V. Viprakasit , S. Pissard , C. Farra , A. Al-Ali , S. Al-Ateeq , W. Krugluger

Clinical Chemistry and Laboratory Medicine 2007؛ 5()

14

Connexin-26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in the Iranian Population

H. Najmabadi , A. Daneshi , M. Mohseni , K. Kahrizi , Y. Shafeghati , Y. Riazalhosseini , R. J. H. Smith , K. Farhadi , M. Malekpour , S. Arzhangi , R. A. Cucci

American Journal of Human Genetics 2003؛ 5()

15	The spectrum of alpha-thalassemia mutations in Iran H. Najmabadi , C. Oberkanins , H. Y. Law , K. Kahrizi , R. Kariminejad , S. Dadgar , M. Neishabury , E. Keyhani , M. G. S. Abadi , N. Al Madani , F. Afrozan , W. Krugluger American Journal of Human Genetics 2003؛ 5()

16	Report of Haemoglobin J-Toronto and alpha thalassemia in a family from North of Iran H. Najmabadi , N. Bayat , V. Hadavi , H. Karami , P. Roshan , M. R. Mandavi , H. Rohanizadeh Annals of the Rheumatic Diseases 2012؛ 4()

17	A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus H. Najmabadi , T. Yang , K. Kahrizi , R. J. H. Smith , N. Bazazzadeghan , N. Meyer Clinical Genetics 2010؛ 4()

18	Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein H. Najmabadi , K. Kahrizi , R. J. H. Smith , Y. Zhang , M. S. Hildebrand , M. R. Avenarius , N. C. Meyer , L. L. H. Sinith American Journal of Human Genetics 2009؛ 4()

19	Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency H. Najmabadi , M. Azar , F. Saffari , R. C. Wilson , S. Nimkarn , M. Dumic , J. Obeid , M. I. New Molecular Genetics and Metabolism 2007؛ 4()

20	Sensorineural deafness and male infertility: a contiguous gene deletion syndrome H. Najmabadi , M. Zanganeh , A. Daneshi , M. Mohseni , K. Kahrizi , F. Mojahedi , R. J. H. Smith , Y. Zhang , M. Malekpour , N. Al-Madani Journal of Medical Genetics 2007؛ 4()