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Items: 1 to 20 of 92

1.

Investigation of genetic causes of intellectual disability in kerman province, South East of iran.

Soltani Banavandi MJ, Kahrizi K, Behjati F, Mohseni M, Darvish H, Bahman I, Abedinni SS, Ghasemi Firouzabadi S, Jafari E, Ghadami Sh, Sabbagh F, Kavoosi GR, Najmabadi H.

Iran Red Crescent Med J. 2012 Feb;14(2):79-85. Epub 2012 Feb 1.

2.

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, Abedini SS, Bahman I, Jamali P, Azimi S, Mojahedi F, Dehghan A, Shafeghati Y, Jankhah A, Falah M, Soltani Banavandi MJ, Ghani M, Garshasbi M, Rakhshani F, Naghavi A, Tzschach A, Neitzel H, Ropers HH, Kuss AW, Behjati F, Kahrizi K, Najmabadi H.

J Med Genet. 2010 Dec;47(12):823-8. doi: 10.1136/jmg.2009.076398. Epub 2010 Oct 26. Erratum in: J Med Genet. 2014 Jan;51(1):70. Ghani-Kakhi, M [corrected to Ghani, M].

PMID:
20978018
3.

A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly.

Akbariazar E, Ebrahimpour M, Akbari S, Arzhanghi S, Abedini SS, Najmabadi H, Kahrizi K.

Iran J Child Neurol. 2013 Spring;7(2):23-30.

4.

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.

Gul A, Hassan MJ, Mahmood S, Chen W, Rahmani S, Naseer MI, Dellefave L, Muhammad N, Rafiq MA, Ansar M, Chishti MS, Ali G, Siddique T, Ahmad W.

Neurogenetics. 2006 May;7(2):105-10. Epub 2006 Apr 21.

PMID:
16673149
5.

Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations.

Kumar A, Blanton SH, Babu M, Markandaya M, Girimaji SC.

Clin Genet. 2004 Oct;66(4):341-8.

PMID:
15355437
6.

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.

Davarniya B, Hu H, Kahrizi K, Musante L, Fattahi Z, Hosseini M, Maqsoud F, Farajollahi R, Wienker TF, Ropers HH, Najmabadi H.

PLoS One. 2015 Aug 26;10(8):e0129631. doi: 10.1371/journal.pone.0129631. eCollection 2015.

7.

Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.

Ahmed I, Rafiq MA, Vincent JB, Bhatti A, Ayub M, John P.

Acta Neuropsychiatr. 2015 Feb;27(1):38-47. doi: 10.1017/neu.2014.37. Epub 2014 Dec 1.

PMID:
25434728
8.
9.

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.

Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H.

Hum Genet. 2011 Feb;129(2):141-8. doi: 10.1007/s00439-010-0907-3. Epub 2010 Nov 10.

PMID:
21063731
10.

Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss.

Tabatabaiefar M, Alasti F, Zohour MM, Shariati L, Farrokhi E, Farhud D, Camp G, Noori-Daloii M, Chaleshtori MH.

Iran J Public Health. 2011;40(2):34-48. Epub 2011 Jun 30.

11.

Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.

Kousar R, Nawaz H, Khurshid M, Ali G, Khan SU, Mir H, Ayub M, Wali A, Ali N, Jelani M, Basit S, Ahmad W, Ansar M.

J Child Neurol. 2010 Jun;25(6):715-20. doi: 10.1177/0883073809346850. Epub 2009 Oct 6.

PMID:
19808985
12.

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

Woods CG, Bond J, Enard W.

Am J Hum Genet. 2005 May;76(5):717-28. Epub 2005 Mar 31. Review.

13.

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.

Hussain MS, Baig SM, Neumann S, Nürnberg G, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Altmüller J, Frommolt P, Thiele H, Noegel AA, Nürnberg P.

Am J Hum Genet. 2012 May 4;90(5):871-8. doi: 10.1016/j.ajhg.2012.03.016. Epub 2012 Apr 19.

14.

Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population.

Pouya AR, Abedini SS, Mansoorian N, Behjati F, Nikzat N, Mohseni M, Nieh SE, Abbasi Moheb L, Darvish H, Monajemi GB, Banihashemi S, Kahrizi K, Ropers HH, Najmabadi H.

Eur J Med Genet. 2009 Jul-Aug;52(4):170-3. doi: 10.1016/j.ejmg.2009.03.014. Epub 2009 Apr 8.

PMID:
19361583
15.

Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.

Kumar A, Girimaji SC, Duvvari MR, Blanton SH.

Am J Hum Genet. 2009 Feb;84(2):286-90. doi: 10.1016/j.ajhg.2009.01.017.

16.

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME.

Am J Hum Genet. 2010 Jul 9;87(1):40-51. doi: 10.1016/j.ajhg.2010.06.003.

17.

A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.

Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W.

J Hum Genet. 2006;51(9):760-4. Epub 2006 Aug 10.

PMID:
16900296
18.

Genetic heterogeneity in Pakistani microcephaly families.

Sajid Hussain M, Marriam Bakhtiar S, Farooq M, Anjum I, Janzen E, Reza Toliat M, Eiberg H, Kjaer KW, Tommerup N, Noegel AA, Nürnberg P, Baig SM, Hansen L.

Clin Genet. 2013 May;83(5):446-51. doi: 10.1111/j.1399-0004.2012.01932.x. Epub 2012 Aug 7.

PMID:
22775483
19.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
20.

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation.

Roberts E, Hampshire DJ, Pattison L, Springell K, Jafri H, Corry P, Mannon J, Rashid Y, Crow Y, Bond J, Woods CG.

J Med Genet. 2002 Oct;39(10):718-21.

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