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Items: 1 to 50 of 173

2.

Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.

Kaur P, Bhavani GS, Raj A, Girisha KM, Shukla A.

J Hum Genet. 2019 Oct 8. doi: 10.1038/s10038-019-0678-1. [Epub ahead of print]

PMID:
31591492
3.

ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome.

Shukla A, Narayanan DL, Kaur P, Girisha KM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2019 Oct 3.

4.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N.

J Hum Genet. 2019 Sep 17. doi: 10.1038/s10038-019-0667-4. [Epub ahead of print]

PMID:
31530938
5.

Meckel syndrome: Clinical and mutation profile in six fetuses.

Radhakrishnan P, Nayak SS, Shukla A, Lindstrand A, Girisha KM.

Clin Genet. 2019 Aug 14. doi: 10.1111/cge.13623. [Epub ahead of print]

PMID:
31411728
6.

The third family with Eiken syndrome.

Jacob P, Soni JP, Mortier G, Girisha KM.

Clin Genet. 2019 Oct;96(4):378-379. doi: 10.1111/cge.13601. Epub 2019 Jul 11. No abstract available.

PMID:
31297790
7.

A novel bi-allelic loss-of-function variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1-related myopathy.

Shukla A, Narayanan DL, Asher U, Girisha KM.

Clin Genet. 2019 Sep;96(3):276-277. doi: 10.1111/cge.13596. Epub 2019 Jul 10. No abstract available.

PMID:
31260566
8.

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.

Narayanan DL, Shukla A, Kausthubham N, Bhavani GS, Shah H, Mortier G, Girisha KM.

Am J Med Genet A. 2019 Sep;179(9):1709-1717. doi: 10.1002/ajmg.a.61267. Epub 2019 Jun 27.

PMID:
31250547
9.

Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA.

Kaur P, Wamelink MMC, van der Knaap MS, Girisha KM, Shukla A.

Eur J Med Genet. 2019 Aug;62(8):103708. doi: 10.1016/j.ejmg.2019.103708. Epub 2019 Jun 25.

PMID:
31247379
10.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Pehlivan D, Bayram Y, Gunes N, Coban Akdemir Z, Shukla A, Bierhals T, Tabakci B, Sahin Y, Gezdirici A, Fatih JM, Gulec EY, Yesil G, Punetha J, Ocak Z, Grochowski CM, Karaca E, Albayrak HM, Radhakrishnan P, Erdem HB, Sahin I, Yildirim T, Bayhan IA, Bursali A, Elmas M, Yuksel Z, Ozdemir O, Silan F, Yildiz O, Yesilbas O, Isikay S, Balta B, Gu S, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Gibbs RA, Tsiakas K, Hempel M, Girisha KM, Gul D, Posey JE, Elcioglu NH, Tuysuz B, Lupski JR.

Am J Hum Genet. 2019 Jul 3;105(1):132-150. doi: 10.1016/j.ajhg.2019.05.015. Epub 2019 Jun 20.

PMID:
31230720
11.

GATAD2B-related intellectual disability due to parental mosaicism and review of literature.

Kaur P, Mishra S, Rajesh SM, Girisha KM, Shukla A.

Clin Dysmorphol. 2019 Oct;28(4):190-194. doi: 10.1097/MCD.0000000000000288.

PMID:
31205050
12.

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Dupont MA, Humbert C, Huber C, Siour Q, Guerrera IC, Jung V, Christensen A, Pouliet A, Garfa-Traoré M, Nitschké P, Injeyan M, Millar K, Chitayat D, Shannon P, Girisha KM, Shukla A, Mechler C, Lorentzen E, Benmerah A, Cormier-Daire V, Jeanpierre C, Saunier S, Delous M.

Hum Mol Genet. 2019 Aug 15;28(16):2720-2737. doi: 10.1093/hmg/ddz091.

PMID:
31042281
13.

Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities.

Shukla A, Girisha KM, Somashekar PH, Nampoothiri S, McClellan R, Vernon HJ.

Am J Med Genet A. 2019 May;179(5):870-874. doi: 10.1002/ajmg.a.61118. Epub 2019 Apr 2.

PMID:
30941876
14.

Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene.

Kaur P, Neethukrishna K, Kumble A, Girisha KM, Shukla A.

Am J Med Genet A. 2019 May;179(5):857-861. doi: 10.1002/ajmg.a.61103. Epub 2019 Feb 28.

PMID:
30816001
15.

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

Chang HR, Cho SY, Lee JH, Lee E, Seo J, Lee HR, Cavalcanti DP, Mäkitie O, Valta H, Girisha KM, Lee C, Neethukrishna K, Bhavani GS, Shukla A, Nampoothiri S, Phadke SR, Park MJ, Ikegawa S, Wang Z, Higgs MR, Stewart GS, Jung E, Lee MS, Park JH, Lee EA, Kim H, Myung K, Jeon W, Lee K, Kim D, Kim OH, Choi M, Lee HW, Kim Y, Cho TJ.

Am J Hum Genet. 2019 Mar 7;104(3):439-453. doi: 10.1016/j.ajhg.2019.01.009. Epub 2019 Feb 14.

16.

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Sheth J, Bhavsar R, Mistri M, Pancholi D, Bavdekar A, Dalal A, Ranganath P, Girisha KM, Shukla A, Phadke S, Puri R, Panigrahi I, Kaur A, Muranjan M, Goyal M, Ramadevi R, Shah R, Nampoothiri S, Danda S, Datar C, Kapoor S, Bhatwadekar S, Sheth F.

BMC Med Genet. 2019 Feb 14;20(1):31. doi: 10.1186/s12881-019-0759-1.

17.

Cornelia de Lange syndrome in diverse populations.

Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID.

Am J Med Genet A. 2019 Feb;179(2):150-158. doi: 10.1002/ajmg.a.61033. Epub 2019 Jan 6.

PMID:
30614194
18.

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H.

Brain. 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310.

PMID:
30576410
19.

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV.

Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001.

20.

Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype.

Rai MK, Pai R, Prabhu MA, Pasha SW, Kedambadi RC, Kamath P, Augustine AJ, Bhavani GS, Girisha KM.

Pacing Clin Electrophysiol. 2019 Feb;42(2):201-207. doi: 10.1111/pace.13569. Epub 2018 Dec 19.

PMID:
30516834
21.

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.

Girisha KM, von Elsner L, Neethukrishna K, Muranjan M, Shukla A, Bhavani GS, Nishimura G, Kutsche K, Mortier G.

Hum Mutat. 2019 Mar;40(3):299-309. doi: 10.1002/humu.23693. Epub 2018 Dec 21.

PMID:
30488656
22.

Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India.

Uttarilli A, Shah H, Bhavani GS, Upadhyai P, Shukla A, Girisha KM.

Bone. 2019 Mar;120:204-211. doi: 10.1016/j.bone.2018.10.026. Epub 2018 Nov 6.

PMID:
30408610
23.

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Somashekar PH, Girisha KM, Nampoothiri S, Gowrishankar K, Devi RR, Gupta N, Narayanan DL, Kaur A, Bajaj S, Jagadeesh S, Lewis LES, Shailaja S, Shukla A.

Clin Genet. 2019 Mar;95(3):398-402. doi: 10.1111/cge.13468. Epub 2018 Nov 27.

PMID:
30394532
24.

Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.

Hebbar M, Shukla A, Nampoothiri S, Bielas S, Girisha KM.

J Hum Genet. 2019 Jan;64(1):17-21. doi: 10.1038/s10038-018-0523-y. Epub 2018 Oct 18.

25.

Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.

Radhakrishnan P, Moirangthem A, Nayak SS, Shukla A, Mathew M, Girisha KM.

Clin Dysmorphol. 2019 Jan;28(1):17-21. doi: 10.1097/MCD.0000000000000248.

PMID:
30303820
26.

Genomic and phenotypic delineation of congenital microcephaly.

Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Şahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS.

Genet Med. 2019 Mar;21(3):545-552. doi: 10.1038/s41436-018-0140-3. Epub 2018 Sep 14.

PMID:
30214071
27.

Introducing in AJMG Part A: Case reports in diverse populations.

Girisha KM, Wonkam A, Muenke M.

Am J Med Genet A. 2018 Jul;176(7):1547-1548. doi: 10.1002/ajmg.a.40353. No abstract available.

PMID:
30160834
28.

Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome.

Kanthi A, Hebbar M, Bielas SL, Girisha KM, Shukla A.

Eur J Med Genet. 2019 Jun;62(6):103528. doi: 10.1016/j.ejmg.2018.08.009. Epub 2018 Aug 22.

PMID:
30142437
29.

Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1.

Shukla A, Kaur P, Girisha KM.

J Pediatr Genet. 2018 Sep;7(3):130-133. doi: 10.1055/s-0038-1641177. Epub 2018 Apr 5.

30.

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.

Cannaerts E, Shukla A, Hasanhodzic M, Alaerts M, Schepers D, Van Laer L, Girisha KM, Hojsak I, Loeys B, Verstraeten A.

BMC Med Genet. 2018 Aug 8;19(1):140. doi: 10.1186/s12881-018-0655-0.

31.

Report of second case and clinical and molecular characterization of Eiken syndrome.

Moirangthem A, Narayanan DL, Jacob P, Nishimura G, Mortier G, Girisha KM.

Clin Genet. 2018 Nov;94(5):457-460. doi: 10.1111/cge.13413. Epub 2018 Jul 27.

PMID:
29987841
32.

Facial profile and additional features in fetuses with trisomy 21.

Radhakrishnan P, Nayak SS, Shukla A, Girisha KM.

Clin Dysmorphol. 2018 Oct;27(4):126-129. doi: 10.1097/MCD.0000000000000234.

PMID:
29985174
33.

Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.

Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Başaran S, Yücel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B.

Nature. 2018 Sep;561(7722):E7. doi: 10.1038/s41586-018-0296-7.

PMID:
29977062
34.

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.

Srivastava A, Srivastava KR, Hebbar M, Galada C, Kadavigrere R, Su F, Cao X, Chinnaiyan AM, Girisha KM, Shukla A, Bielas SL.

Eur J Hum Genet. 2018 Nov;26(11):1582-1587. doi: 10.1038/s41431-018-0209-0. Epub 2018 Jul 5.

PMID:
29976978
35.

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.

Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Başaran S, Yücel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B.

Nature. 2018 May;557(7706):564-569. doi: 10.1038/s41586-018-0118-y. Epub 2018 May 16. Erratum in: Nature. 2018 Sep;561(7722):E7.

PMID:
29769720
36.

Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype.

Salian S, Nampoothiri S, Shukla A, Girisha KM.

Congenit Anom (Kyoto). 2019 Jan;59(1):26-27. doi: 10.1111/cga.12285. Epub 2018 May 16. No abstract available.

PMID:
29704261
37.

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.

Hebbar M, Kanthi A, Shukla A, Bielas S, Girisha KM.

J Hum Genet. 2018 Jul;63(8):935-939. doi: 10.1038/s10038-018-0462-7. Epub 2018 Apr 25.

38.

A review of skeletal dysplasia research in India.

Uttarilli A, Shah H, Shukla A, Girisha KM.

J Postgrad Med. 2018 Apr-Jun;64(2):98-103. doi: 10.4103/jpgm.JPGM_527_17. Review.

39.

A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ.

Shukla A, Saneto RP, Hebbar M, Mirzaa G, Girisha KM.

Am J Med Genet A. 2018 May;176(5):1232-1237. doi: 10.1002/ajmg.a.38687.

40.

Williams-Beuren syndrome in diverse populations.

Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M.

Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672.

41.

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

Salian S, Shukla A, Shah H, Bhat SN, Bhat VR, Nampoothiri S, Shenoy R, Phadke SR, Hariharan SV, Girisha KM.

Clin Genet. 2018 Jul;94(1):159-164. doi: 10.1111/cge.13252. Epub 2018 Apr 14.

PMID:
29566257
42.

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.

Mrosk J, Bhavani GS, Shah H, Hecht J, Krüger U, Shukla A, Kornak U, Girisha KM.

Bone. 2018 May;110:368-377. doi: 10.1016/j.bone.2018.02.029. Epub 2018 Feb 27.

PMID:
29499418
43.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Kortüm F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K.

Eur J Hum Genet. 2018 May;26(5):695-708. doi: 10.1038/s41431-018-0098-2. Epub 2018 Feb 20.

44.

Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor.

Shambhavi A, Salian S, Shah H, Nair M, Sharan K, Jin DK, Cho SY, Mathew M, Shukla A, Girisha KM.

J Pediatr Genet. 2018 Mar;7(1):9-13. doi: 10.1055/s-0037-1604100. Epub 2017 Jul 13.

45.

Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.

Galada C, Hebbar M, Lewis L, Soans S, Kadavigere R, Srivastava A, Bielas S, Girisha KM, Shukla A.

Congenit Anom (Kyoto). 2018 Sep;58(5):181-182. doi: 10.1111/cga.12275. Epub 2018 Feb 20. Review. No abstract available.

46.

Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis.

Shukla A, Das Bhowmik A, Hebbar M, Rajagopal KV, Girisha KM, Gupta N, Dalal A.

J Hum Genet. 2018 Jan;63(1):19-25. doi: 10.1038/s10038-017-0363-1. Epub 2017 Nov 16.

PMID:
29215095
47.

p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.

Hebbar M, Kanthi A, Shrikiran A, Patil S, Muranjan M, Francis F, Bhat B V, Girisha KM, Shukla A.

Am J Med Genet A. 2018 Jan;176(1):156-160. doi: 10.1002/ajmg.a.38522. Epub 2017 Nov 17.

PMID:
29150899
48.

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S.

Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1.

49.

Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation.

Patil SJ, Somashekar PH, Shukla A, Siddaiah S, Bhat V, Girisha KM, Rao PN.

J Pediatr Genet. 2017 Sep;6(3):198-204. doi: 10.1055/s-0037-1602386. Epub 2017 Apr 24.

50.

Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation.

Radhakrishnan P, Nayak SS, Pai MV, Shukla A, Girisha KM.

J Pediatr Genet. 2017 Sep;6(3):194-197. doi: 10.1055/s-0037-1602142. Epub 2017 Apr 10.

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