Anju Shukla

Anju Shukla

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Anju Shukla

Publications by authors named "Anju Shukla"

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

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

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

Clin Dysmorphol 2019 Oct;28(4):190-194

Department of Medical Genetics, Kasturba Medical College, Manipal.

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http://dx.doi.org/10.1097/MCD.0000000000000288DOI Listing
October 2019

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

J Hum Genet 2019 Oct 8. Epub 2019 Oct 8.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1038/s10038-019-0678-1DOI Listing
October 2019

Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.

Am J Med Genet A 2019 Oct 31. Epub 2019 Oct 31.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.

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http://dx.doi.org/10.1002/ajmg.a.61388DOI Listing
October 2019

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

Am J Med Genet A 2019 Sep 27;179(9):1709-1717. Epub 2019 Jun 27.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.61267DOI Listing
September 2019

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

Clin Genet 2019 Sep 10;96(3):276-277. Epub 2019 Jul 10.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education Manipal, Manipal, India.

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http://dx.doi.org/10.1111/cge.13596DOI Listing
September 2019

Embryonal carcinoma testis with extensive metastasis and IVC thrombosis.

Indian J Pathol Microbiol 2019 Apr-Jun;62(2):350-352

Department of Oncosurgery, Sahara Hospital, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.4103/IJPM.IJPM_63_18DOI Listing
August 2019

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

Eur J Med Genet 2019 Aug 25;62(8):103708. Epub 2019 Jun 25.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103708DOI Listing
August 2019

Meckel syndrome: Clinical and mutation profile in six fetuses.

Clin Genet 2019 Aug 14. Epub 2019 Aug 14.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1111/cge.13623DOI Listing
August 2019

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

Eur J Med Genet 2019 Jun 22;62(6):103528. Epub 2018 Aug 22.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183027
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http://dx.doi.org/10.1016/j.ejmg.2018.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386622PMC
June 2019

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

Am J Med Genet A 2019 May 28;179(5):857-861. Epub 2019 Feb 28.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://doi.wiley.com/10.1002/ajmg.a.61103
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http://dx.doi.org/10.1002/ajmg.a.61103DOI Listing
May 2019

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Clin Genet 2019 Mar 27;95(3):398-402. Epub 2018 Nov 27.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

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http://doi.wiley.com/10.1111/cge.13468
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http://dx.doi.org/10.1111/cge.13468DOI Listing
March 2019

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

Bone 2019 03 6;120:204-211. Epub 2018 Nov 6.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S87563282183040
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http://dx.doi.org/10.1016/j.bone.2018.10.026DOI Listing
March 2019

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

Congenit Anom (Kyoto) 2019 Jan 16;59(1):26-27. Epub 2018 May 16.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1111/cga.12285DOI Listing
January 2019

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

J Hum Genet 2019 Jan 18;64(1):17-21. Epub 2018 Oct 18.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1038/s10038-018-0523-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344291PMC
January 2019

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

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.

Eur J Hum Genet 2018 11 5;26(11):1582-1587. Epub 2018 Jul 5.

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1038/s41431-018-0209-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189076PMC
November 2018

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

Congenit Anom (Kyoto) 2018 Sep 20;58(5):181-182. Epub 2018 Feb 20.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1111/cga.12275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338226PMC
September 2018

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

J Pediatr Genet 2018 Sep 5;7(3):130-133. Epub 2018 Apr 5.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

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http://dx.doi.org/10.1055/s-0038-1641177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087475PMC
September 2018

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

BMC Med Genet 2018 08 8;19(1):140. Epub 2018 Aug 8.

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, 2650, Antwerp, Belgium.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0655-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6083619PMC
August 2018

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

J Hum Genet 2018 Jul 25;63(8):935-939. Epub 2018 Apr 25.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1038/s10038-018-0462-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060014PMC
July 2018

Sarcoidiosis: An Important Differential Diagnosis in Patients With Infiltrative Liver Disease.

J Clin Exp Hepatol 2019 Mar-Apr;9(2):280-281. Epub 2018 Jun 27.

Department of Pathology, Sahara Hospital, Viraj Khand, Gomti Nagar, Lucknow 226010, India.

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http://dx.doi.org/10.1016/j.jceh.2018.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6477070PMC
June 2018

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

Bone 2018 05 27;110:368-377. Epub 2018 Feb 27.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2018.02.029DOI Listing
May 2018

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

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

Am J Med Genet A 2018 05;176(5):1232-1237

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.38687DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5918416PMC
May 2018

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

J Pediatr Genet 2018 Mar 13;7(1):9-13. Epub 2017 Jul 13.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.

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http://dx.doi.org/10.1055/s-0037-1604100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809170PMC
March 2018

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

Am J Med Genet A 2018 01 17;176(1):156-160. Epub 2017 Nov 17.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.38522DOI Listing
January 2018

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

J Hum Genet 2018 Jan 16;63(1):19-25. Epub 2017 Nov 16.

Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.

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http://dx.doi.org/10.1038/s10038-017-0363-1DOI Listing
January 2018

Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.

Ophthalmic Genet 2017 12 7;38(6):533-536. Epub 2017 Apr 7.

a Department of Medical Genetics , Kasturba Medical College, Manipal University , Manipal , India.

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http://dx.doi.org/10.1080/13816810.2017.1301967DOI Listing
December 2017

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

Eur J Med Genet 2017 Oct 12;60(10):533-535. Epub 2017 Jul 12.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.07.010DOI Listing
October 2017

A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

J Hum Genet 2017 09 15;62(9):867. Epub 2017 Jun 15.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1038/jhg.2017.65DOI Listing
September 2017

Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in Gene.

J Pediatr Genet 2017 Sep 7;6(3):177-180. Epub 2017 Mar 7.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1055/s-0037-1599201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548527PMC
September 2017

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in .

J Pediatr Genet 2017 Sep 7;6(3):191-193. Epub 2017 Mar 7.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1055/s-0037-1599148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548534PMC
September 2017

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

J Pediatr Genet 2017 Sep 10;6(3):194-197. Epub 2017 Apr 10.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1055/s-0037-1602142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548533PMC
September 2017

India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin.

BMC Res Notes 2017 Jun 27;10(1):233. Epub 2017 Jun 27.

Center for Neurotherapeutics Development, University of Rochester Medical Center, Rochester, NY, USA.

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http://dx.doi.org/10.1186/s13104-017-2556-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488357PMC
June 2017

Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

Congenit Anom (Kyoto) 2017 May;57(3):83-85

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1111/cga.12188DOI Listing
May 2017

Interference of hemoglobin D Punjab on measurements of glycated hemoglobin.

Indian J Pathol Microbiol 2015 Oct-Dec;58(4):572-4

Department of Laboratory Medicine, Sahara Hospital, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.4103/0377-4929.168874DOI Listing
April 2017

Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy.

Indian J Pediatr 2017 04 21;84(4):330-331. Epub 2016 Dec 21.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, 576104, India.

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http://dx.doi.org/10.1007/s12098-016-2279-8DOI Listing
April 2017

A novel sequence variant in SFRP4 causing Pyle disease.

J Hum Genet 2017 Apr 19;62(5):575-576. Epub 2017 Jan 19.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1038/jhg.2016.166DOI Listing
April 2017

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.

J Hum Genet 2017 Mar 10;62(3):437-441. Epub 2016 Nov 10.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2016.136DOI Listing
March 2017

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.

Am J Med Genet A 2017 Mar 27;173(3):588-595. Epub 2017 Jan 27.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.38064DOI Listing
March 2017

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature.

Eur J Med Genet 2017 Feb 29;60(2):118-123. Epub 2016 Nov 29.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241222PMC
February 2017

What does fetal autopsy unmask in oligohydramnios?

J Matern Fetal Neonatal Med 2016 18;29(14):2347-51. Epub 2015 Sep 18.

a Department of Medical Genetics and.

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http://www.tandfonline.com/doi/full/10.3109/14767058.2015.10
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http://dx.doi.org/10.3109/14767058.2015.1085021DOI Listing
January 2017

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.

Am J Med Genet A 2016 11 18;170(11):2998-3003. Epub 2016 May 18.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37759DOI Listing
November 2016

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

Am J Hum Genet 2016 Nov 27;99(5):1206-1216. Epub 2016 Oct 27.

Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097934PMC
November 2016

Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene.

Indian J Pediatr 2016 Sep 1;83(9):1003-5. Epub 2016 Feb 1.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.

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http://dx.doi.org/10.1007/s12098-015-1947-4DOI Listing
September 2016

Congenital omphalocele and cleft palate in two fetuses.

Congenit Anom (Kyoto) 2016 Jul;56(4):190-1

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1111/cga.12158DOI Listing
July 2016

Spectrum of urorectal septum malformation sequence.

Congenit Anom (Kyoto) 2016 May;56(3):119-26

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal University, Karnataka, India.

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http://doi.wiley.com/10.1111/cga.12149
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http://dx.doi.org/10.1111/cga.12149DOI Listing
May 2016

Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2.

BMJ Case Rep 2016 May 13;2016. Epub 2016 May 13.

Department of Medical Genetics, Kasturba Medical College Manipal, Manipal, Karnataka, India.

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http://dx.doi.org/10.1136/bcr-2016-215162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4885364PMC
May 2016

Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis.

Indian J Dermatol 2016 Jan-Feb;61(1):122

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.

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http://dx.doi.org/10.4103/0019-5154.174134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763652PMC
March 2016

Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability.

Genet Med 2016 Feb 16;18(2):168-73. Epub 2015 Apr 16.

Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://dx.doi.org/10.1038/gim.2015.51DOI Listing
February 2016

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

Am J Med Genet A 2016 Feb 24;170A(2):410-417. Epub 2015 Nov 24.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.37447DOI Listing
February 2016

Disseminated Medulloblastoma in a Child with Germline BRCA2 6174delT Mutation and without Fanconi Anemia.

Front Oncol 2015 27;5:191. Epub 2015 Aug 27.

Division of Hematology-Oncology, Department of Pediatrics, Children's Hospital Los Angeles , Los Angeles, CA , USA ; Department of Pediatrics, Keck School of Medicine, University of Southern California , Los Angeles, CA , USA ; Department of Pathology, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California , Los Angeles, CA , USA.

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http://dx.doi.org/10.3389/fonc.2015.00191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550790PMC
September 2015

Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes.

Am J Med Genet A 2015 Aug 21;167A(8):1927-31. Epub 2015 Apr 21.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.37116DOI Listing
August 2015

Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling.

Clin Dysmorphol 2015 Jul;24(3):118-21

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000076DOI Listing
July 2015

Clinical utility of fetal autopsy and its impact on genetic counseling.

Prenat Diagn 2015 Jul 5;35(7):685-91. Epub 2015 Apr 5.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/pd.4592DOI Listing
July 2015

Central nervous system mycosis: analysis of 10 cases.

Indian J Pathol Microbiol 2014 Oct-Dec;57(4):591-4

Department of Laboratory Medicine, Sahara Hospital, Lucknow, India.

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http://dx.doi.org/10.4103/0377-4929.142678DOI Listing
April 2015

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

Eur J Med Genet 2015 Jan 24;58(1):21-7. Epub 2014 Oct 24.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.10.001DOI Listing
January 2015

Anomalies associated with single umbilical artery at perinatal autopsy.

Indian Pediatr 2015 Jan;52(1):73-4

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India,

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http://medind.nic.in/ibv/t15/i1/ibvt15i1p73.pdf
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http://link.springer.com/content/pdf/10.1007/s13312-015-0574
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http://dx.doi.org/10.1007/s13312-015-0574-5DOI Listing
January 2015

Fibrodysplasia ossificans progressiva: three Indian patients with mutation in the ACVR1 gene.

Indian J Pediatr 2014 Jun 6;81(6):617-9. Epub 2013 Aug 6.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Rae Bareilly Road, Lucknow, 226 014, India.

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http://dx.doi.org/10.1007/s12098-013-1117-5DOI Listing
June 2014

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

Am J Med Genet A 2014 Jun 25;164A(6):1482-9. Epub 2014 Mar 25.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1002/ajmg.a.36481DOI Listing
June 2014

A sequence variation: 713-8delC in the transforming growth factor beta 1 gene polymorphism in thalassemia major patients.

J Clin Densitom 2014 Jan-Mar;17(1):185-9. Epub 2013 Jun 18.

Department of Endocrinology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1016/j.jocd.2013.04.004DOI Listing
April 2014

Should factor V Leiden mutation and prothrombin gene polymorphism testing be done in women with recurrent miscarriage from North India?

Arch Gynecol Obstet 2013 Feb 19;287(2):375-81. Epub 2012 Sep 19.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Rae Bareli Road, Lucknow, UP 226014, India.

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http://link.springer.com/10.1007/s00404-012-2557-2
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http://dx.doi.org/10.1007/s00404-012-2557-2DOI Listing
February 2013

Cytokine gene polymorphisms in northern Indian women with recurrent miscarriages.

Fertil Steril 2013 Feb 9;99(2):433-40. Epub 2012 Oct 9.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

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https://linkinghub.elsevier.com/retrieve/pii/S00150282120224
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http://dx.doi.org/10.1016/j.fertnstert.2012.09.025DOI Listing
February 2013