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Items: 40

1.

Evaluating rice for salinity using pot-culture provides a systematic tolerance assessment at the seedling stage.

Kakar N, Jumaa SH, Redoña ED, Warburton ML, Reddy KR.

Rice (N Y). 2019 Jul 30;12(1):57. doi: 10.1186/s12284-019-0317-7.

2.

In vivo proteomics identifies the competence regulon and AliB oligopeptide transporter as pathogenic factors in pneumococcal meningitis.

Schmidt F, Kakar N, Meyer TC, Depke M, Masouris I, Burchhardt G, Gómez-Mejia A, Dhople V, Håvarstein LS, Sun Z, Moritz RL, Völker U, Koedel U, Hammerschmidt S.

PLoS Pathog. 2019 Jul 29;15(7):e1007987. doi: 10.1371/journal.ppat.1007987. eCollection 2019 Jul.

3.

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.

Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM.

Hum Genet. 2019 Jun;138(6):593-600. doi: 10.1007/s00439-019-02000-0. Epub 2019 Apr 13.

PMID:
30982135
4.

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.

Lima Cunha D, Alakloby OM, Gruber R, Kakar N, Ahmad J, Alawbathani S, Plank R, Eckl K, Krabichler B, Altmüller J, Nürnberg P, Zschocke J, Borck G, Schmuth M, Alabdulkareem AS, Abdulaziz Alnutaifi K, Hennies HC.

Mol Genet Genomic Med. 2019 Mar;7(3):e539. doi: 10.1002/mgg3.539. Epub 2019 Jan 1.

5.

Pneumococcal Metabolic Adaptation and Colonization Are Regulated by the Two-Component Regulatory System 08.

Gómez-Mejia A, Gámez G, Hirschmann S, Kluger V, Rath H, Böhm S, Voss F, Kakar N, Petruschka L, Völker U, Brückner R, Mäder U, Hammerschmidt S.

mSphere. 2018 May 16;3(3). pii: e00165-18. doi: 10.1128/mSphere.00165-18. eCollection 2018 May-Jun.

6.

Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.

Kakar N, Horn D, Decker E, Sowada N, Kubisch C, Ahmad J, Borck G, Bergmann C.

Am J Med Genet A. 2018 Feb;176(2):438-442. doi: 10.1002/ajmg.a.38562. Epub 2017 Dec 22.

PMID:
29271569
7.

Mutations of PTPN23 in developmental and epileptic encephalopathy.

Sowada N, Hashem MO, Yilmaz R, Hamad M, Kakar N, Thiele H, Arold ST, Bode H, Alkuraya FS, Borck G.

Hum Genet. 2017 Nov;136(11-12):1455-1461. doi: 10.1007/s00439-017-1850-3. Epub 2017 Oct 31.

PMID:
29090338
8.

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.

Spielmann M, Kakar N, Tayebi N, Leettola C, Nürnberg G, Sowada N, Lupiáñez DG, Harabula I, Flöttmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmüller J, Thiele H, van Bokhoven H, Schwartz CE, Nürnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G.

Genome Res. 2016 Feb;26(2):183-91. doi: 10.1101/gr.199430.115. Epub 2016 Jan 11.

9.

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.

Daud S, Kakar N, Goebel I, Hashmi AS, Yaqub T, Nürnberg G, Nürnberg P, Morris-Rosendahl DJ, Wasim M, Volk AE, Kubisch C, Ahmad J, Borck G.

Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):260-5. doi: 10.3109/21678421.2015.1125501. Epub 2016 Jan 11.

PMID:
26751646
10.

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.

Stange K, Désir J, Kakar N, Mueller TD, Budde BS, Gordon CT, Horn D, Seemann P, Borck G.

Orphanet J Rare Dis. 2015 Jun 24;10:84. doi: 10.1186/s13023-015-0299-5.

11.

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.

Kakar N, Ahmad J, Morris-Rosendahl DJ, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns WB, Borck G.

Hum Genet. 2015 Jan;134(1):45-51. doi: 10.1007/s00439-014-1487-4. Epub 2014 Sep 14.

PMID:
25218063
12.

Hematological profile and risk factors associated with pulmonary tuberculosis patients in Quetta, Pakistan.

Shafee M, Abbas F, Ashraf M, Alam Mengal M, Kakar N, Ahmad Z, Ali F.

Pak J Med Sci. 2014 Jan;30(1):36-40. doi: 10.12669/pjms.301.4129.

13.

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider NL, Morton DH, Strauss KA, Puffenberger EG, D'Agnano D, Anikster Y, Carducci C, Hyland K, Rotstein M, Leuzzi V, Borck G, Reith ME, Kurian MA.

Brain. 2014 Apr;137(Pt 4):1107-19. doi: 10.1093/brain/awu022. Epub 2014 Mar 10.

14.

Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin.

Baloch AH, Daud S, Raheem N, Luqman M, Ahmad A, Rehman A, Shuja J, Rasheed S, Ali A, Kakar N, Naseeb HK, Mengal MA, Awan MA, Wasim M, Baloch DM, Ahmad J.

Mol Biol Rep. 2014 Feb;41(2):1103-7. doi: 10.1007/s11033-013-2956-x. Epub 2014 Jan 4.

PMID:
24390236
15.

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Graul-Neumann LM, Deichsel A, Wille U, Kakar N, Koll R, Bassir C, Ahmad J, Cormier-Daire V, Mundlos S, Kubisch C, Borck G, Klopocki E, Mueller TD, Doelken SC, Seemann P.

Eur J Hum Genet. 2014 Jun;22(6):726-33. doi: 10.1038/ejhg.2013.222. Epub 2013 Oct 16.

16.

Exon skipping and severe childhood-onset obesity caused by a leptin receptor mutation.

Kakar N, Ahmad J, Kubisch C, Borck G.

Am J Med Genet A. 2013 Oct;161A(10):2672-4. doi: 10.1002/ajmg.a.36125. Epub 2013 Aug 15. No abstract available.

PMID:
23949901
17.

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.

Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Nürnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G.

Am J Hum Genet. 2013 Sep 5;93(3):524-9. doi: 10.1016/j.ajhg.2013.07.005. Epub 2013 Aug 8.

18.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.

Szakszon K, Salpietro C, Kakar N, Knegt AC, Oláh É, Dallapiccola B, Borck G.

Am J Med Genet A. 2013 Apr;161A(4):884-8. doi: 10.1002/ajmg.a.35848. Epub 2013 Feb 22.

PMID:
23436491
19.

Various aspects, patterns and risk factors in breast cancer patients of Balochistan.

Baloch AH, Shuja J, Daud S, Ahmed M, Ahmad A, Tareen M, Khan F, Kakar MA, Baloch DM, Kakar N, Naseeb HK, Ahmad J.

Asian Pac J Cancer Prev. 2012;13(8):4013-6.

20.

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

Kakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, Nürnberg P, Kubisch C, Ahmad J, Borck G.

Eur J Med Genet. 2012 Dec;55(12):727-31. doi: 10.1016/j.ejmg.2012.08.010. Epub 2012 Aug 30.

PMID:
22989526
21.

Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan.

Ahmad J, Le Calvez-Kelm F, Daud S, Voegele C, Vallée M, Ahmad A, Kakar N, McKay JD, Gaborieau V, Léoné M, Sinilnikova O, Sangrajrang S, Tavtigian SV, Lesueur F.

Clin Genet. 2012 Dec;82(6):594-8. doi: 10.1111/j.1399-0004.2012.01869.x. Epub 2012 Apr 8. No abstract available.

PMID:
22486713
22.

A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.

Hussain R, Daud S, Kakar N, Ahmad A, Baloch AH, Tareen AM, Kakar MA, Ahmad J.

Mol Biol Rep. 2012 May;39(5):6197-201. doi: 10.1007/s11033-011-1438-2. Epub 2012 Jan 5.

PMID:
22219087
23.

Clinical manifestations and distribution of cutaneous leishmaniasis in pakistan.

Afghan AK, Kassi M, Kasi PM, Ayub A, Kakar N, Marri SM.

J Trop Med. 2011;2011:359145. doi: 10.1155/2011/359145. Epub 2011 Nov 22.

24.

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar ME, Thoenes M, Kubisch C, Ahmad J, Bolz HJ.

Mol Vis. 2011;17:1940-5. Epub 2011 Jul 16.

25.

An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.

Borck G, Kakar N, Hoch J, Friedrich K, Freudenberg J, Nürnberg G, Yilmaz R, Daud S, Baloch DM, Nürnberg P, Oldenburg J, Ahmad J, Kubisch C.

Hum Genet. 2012 Feb;131(2):209-16. doi: 10.1007/s00439-011-1062-1. Epub 2011 Jul 15.

PMID:
21761136
26.

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C.

Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20.

27.

Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan.

Malik S, Kakar N, Hasnain S, Ahmad J, Wilcox ER, Naz S.

Clin Genet. 2010 Sep;78(3):247-56. doi: 10.1111/j.1399-0004.2010.01375.x. Epub 2010 Feb 10.

PMID:
20184620
28.

A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.

Sajjad N, Goebel I, Kakar N, Cheema AM, Kubisch C, Ahmad J.

BMC Med Genet. 2008 Nov 11;9:99. doi: 10.1186/1471-2350-9-99.

29.

Prevalence of hepatitis C virus (HCV) genotypes in Balochistan.

Afridi S, Naeem M, Hussain A, Kakar N, Babar ME, Ahmad J.

Mol Biol Rep. 2009 Jul;36(6):1511-4. doi: 10.1007/s11033-008-9342-0. Epub 2008 Sep 3.

PMID:
18766467
30.

Wegener's granulomatosis presenting as diabetes insipidus.

Dutta P, Hayatbhat M, Bhansali A, Bambery P, Kakar N.

Exp Clin Endocrinol Diabetes. 2006 Oct;114(9):533-6.

PMID:
17115352
31.

Spontaneously improving Michelin tire baby syndrome.

Sardana K, Mendiratta V, Kakar N, Sharma RC, Koranne RV, Sethi S.

Pediatr Dermatol. 2003 Mar-Apr;20(2):150-2. Review.

PMID:
12657014
32.

Effect of cyclooxygenase-2 inhibitor (celecoxib) on the infarcted heart in situ.

Yamamoto T, Kakar NR, Vina ER, Johnson PE, Bing RJ.

Pharmacology. 2001 Jul;63(1):28-33.

PMID:
11408829
33.

Reticulate acropigmentation of Kitamura: an unusual presentation.

Mendiratta V, Sharma RC, Kakar N, Sarkar R.

J Dermatol. 2000 Nov;27(11):756-7. No abstract available.

PMID:
11138548
34.

Three unusual siblings with Harlequin icthyosis in an Indian family.

Sarkar R, Sharma RC, Sethi S, Basu S, Das R, Mendiratta V, Sardana K, Kakar N.

J Dermatol. 2000 Sep;27(9):609-11.

PMID:
11052238
35.

The effect of aspirin and two nitric oxide donors on the infarcted heart in situ.

Yamamoto T, Kakar NR, Vina ER, Johnson PE, Bing RJ.

Life Sci. 2000 Jul 7;67(7):839-46.

PMID:
10968413
36.

Hereditary wooly hair in an Indian family.

Sarkar R, Koranne RV, Kakar N, Sardana K.

J Dermatol. 2000 Mar;27(3):220-1. No abstract available.

PMID:
10774152
37.

Clinico-bacteriological study of pyodermas in children.

Kakar N, Kumar V, Mehta G, Sharma RC, Koranne RV.

J Dermatol. 1999 May;26(5):288-93.

PMID:
10380429
38.

Production of prostanoids and nitric oxide by infarcted heart in situ and the effect of aspirin.

Yamamoto T, Cohen AM, Kakar NR, Yamamoto M, Johnson PE, Cho YK, Bing RJ.

Biochem Biophys Res Commun. 1999 Apr 13;257(2):488-93.

PMID:
10198239
39.

Familial reactive perforating collagenosis: a case report.

Kumar V, Mehndiratta V, Sharma RC, Narayan S, Koranne RV, Kakar N.

J Dermatol. 1998 Jan;25(1):54-6.

PMID:
9519612
40.

Erythema nodosum leprosum in histoid leprosy: a case report.

Kumar V, Mendiratta V, Sharma RC, Kakar N, Bajaj P.

J Dermatol. 1997 Sep;24(9):611-4.

PMID:
9350110

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