Works matching AU SHUKLA, ANJU

Results: 104

Biallelic Variant, c.644‐13_644‐9del in UNC50 Is Associated With Congenital Myasthenia Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 8, p. 1, doi. 10.1002/ajmg.a.64086

By:

Shravya, Mangalore S.;
Purushothama, Greeshma;
Radhakrishnan, Periyasamy;
Hebbar, Malavika;
Guruvare, Shyamala;
Mathew, Mary;
Bhavani, Gandham SriLakshmi;
Bajaj, Shruti;
Girisha, Katta M.;
Shukla, Anju;
Nayak, Shalini S.

Publication type:

Article

A novel mutation (c.121‑13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene.

Published in:

Molecular Medicine Reports, 2017, v. 15, n. 6, p. 3879, doi. 10.3892/mmr.2017.6434

By:

HIDEO SASAI;
HIROKI OTSUKA;
FUKAO, TOSHIYUKI;
YUKA AOYAMA;
ABDEL KREEM, ELSAYED;
NAKAMA, MINA;
KUMAR, SANDEEP;
AROOR, SHRIKIRAN;
SHUKLA, ANJU

Publication type:

Article

Bi‐Allelic Splicing Variant, c.153‐2A > C in TOMM7 Is Associated With Leigh Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63892

By:

Yeole, Mayuri;
Majethia, Purvi;
Siddiqui, Shahyan;
Girisha, Katta Mohan;
Shukla, Anju;
Radhakrishnan, Periyasamy;
Bhat, Vivekananda

Publication type:

Article

Two sisters with RSPRY1‐related spondyloepimetaphyseal dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63601

By:

Singh, Swati;
Shah, Hitesh;
Dalal, Ashwin;
Shukla, Anju;
Bhavani, Gandham SriLakshmi;
Girisha, Katta M.

Publication type:

Article

c.202_204del in NUP214 causes late onset form of febrile encephalopathy.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63529

By:

Farooqui, Sheeba;
Narayanan, Dhanya Lakshmi;
Mascarenhas, Selinda;
do Rosario, Michelle C.;
Nair, Karthik Vijay;
Periyasamy, Radhakrishnan;
Shukla, Anju

Publication type:

Article

Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B‐related BAFopathy.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2175, doi. 10.1002/ajmg.a.63330

By:

Pande, Shruti;
Mascarenhas, Selinda;
Venkatraman, Aishwarya;
Bhat, Vivekananda;
Narayanan, Dhanya Lakshmi;
Siddiqui, Shahyan;
Bielas, Stephanie;
Girisha, Katta Mohan;
Shukla, Anju

Publication type:

Article

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 730, doi. 10.1002/ajmg.a.63067

By:

Nayak, Shalini S.;
Harkness, Robert;
Shukla, Anju;
Banka, Siddharth;
Newman, William G.;
Girisha, Katta M.

Publication type:

Article

ANN Based Execution Time Prediction Model and Assessment of Input Parameters through ISM.

Published in:

International Arab Journal of Information Technology (IAJIT), 2020, v. 44, n. 5, p. 683, doi. 10.34028/iajit/17/5/1

By:

Shukla, Anju;
Kumar, Shishir;
Singh, Harikesh

Publication type:

Article

Fault Tolerance Based Load Balancing Approach for Web Resources in Cloud Environment.

Published in:

International Arab Journal of Information Technology (IAJIT), 2020, v. 17, n. 2, p. 225, doi. 10.34028/iajit/17/2/10

By:

Shukla, Anju;
Kumar, Shishir;
Singh, Harikesh

Publication type:

Article

Posterior fossa primitive neuroectodermal tumor- A case report.

Published in:

2010

By:

Saxena, Manlsh K.;
Shukla, Anju

Publication type:

Case Study

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 311, doi. 10.1111/cge.14663

By:

Radhakrishnan, Periyasamy;
Quadri, Neha;
Erger, Florian;
Fuhrmann, Nico;
Geist, Otilia‐Maria;
Netzer, Christian;
Khyriem, Ibakordor;
Muranjan, Mamta;
Udani, Vrajesh;
Yeole, Mayuri;
Mascarenhas, Selinda;
Limaye, Sanket;
Siddiqui, Shahyan;
Upadhyai, Priyanka;
Shukla, Anju

Publication type:

Article

Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 221, doi. 10.1111/cge.14086

By:

Altunoglu, Umut;
Börklü, Esra;
Shukla, Anju;
Escande‐Beillard, Nathalie;
Ledig, Susanne;
Azaklı, Hülya;
Nayak, Shalini S.;
Eraslan, Serpil;
Girisha, Katta Mohan;
Kennerknecht, Ingo;
Kayserili, Hülya

Publication type:

Article

Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 201, doi. 10.1111/cge.13970

By:

Majethia, Purvi;
Somashekar, Puneeth Hirivate;
Hebbar, Malavika;
Kadavigere, Rajagopal;
Praveen, Balike Krishna;
Girisha, Katta Mohan;
Shukla, Anju

Publication type:

Article

Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 594, doi. 10.1111/cge.13928

By:

Somashekar, Puneeth H.;
Kaur, Parneet;
Stephen, Joshi;
Guleria, Vishal Singh;
Kadavigere, Rajagopal;
Girisha, Katta Mohan;
Bielas, Stephanie;
Upadhyai, Priyanka;
Shukla, Anju

Publication type:

Article

Genetic disorders with central nervous system white matter abnormalities: An update.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 119, doi. 10.1111/cge.13863

By:

Shukla, Anju;
Kaur, Parneet;
Narayanan, Dhanya Lakshmi;
do Rosario, Michelle C.;
Kadavigere, Rajagopal;
Girisha, Katta Mohan

Publication type:

Article

Meckel syndrome: Clinical and mutation profile in six fetuses.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 560, doi. 10.1111/cge.13623

By:

Radhakrishnan, Periyasamy;
Nayak, Shalini S.;
Shukla, Anju;
Lindstrand, Anna;
Girisha, Katta M.

Publication type:

Article

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

Published in:

Clinical Genetics, 2019, v. 96, n. 3, p. 276, doi. 10.1111/cge.13596

By:

Shukla, Anju;
Narayanan, Dhanya L.;
Asher, Urja;
Girisha, Katta M.

Publication type:

Article

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 398, doi. 10.1111/cge.13468

By:

Somashekar, Puneeth H.;
Girisha, Katta M.;
Shukla, Anju;
Lewis, Leslie E. S.;
Shailaja, Shenoy;
Nampoothiri, Sheela;
Gowrishankar, Kalpana;
Devi, Radha R.;
Gupta, Neerja;
Narayanan, Dhanya L.;
Kaur, Anupriya;
Bajaj, Shruti;
Jagadeesh, Sujatha

Publication type:

Article

Intermittent episodes of acute severe encephalomyopathy and early death in two siblings caused by biallelic likely pathogenic variants in FASTKD2: Expanding phenotype and literature review.

Published in:

Annals of Human Genetics, 2025, v. 89, n. 2/3, p. 77, doi. 10.1111/ahg.12585

By:

Kaur, Namanpreet;
Somashekar, Puneeth H.;
Deepha, Sekar;
Govindaraj, Periyasamy;
Shukla, Anju;
Patil, Siddaramappa J.

Publication type:

Article

Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 2, p. 94, doi. 10.1111/ahg.12452

By:

Majethia, Purvi;
Do Rosario, Michelle C.;
Kaur, Parneet;
Karanvir;
Shankar, Raagul;
Sharma, Suvasini;
Siddiqui, Shahyan;
Shukla, Anju

Publication type:

Article

Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 4, p. 345, doi. 10.1111/ahg.12377

By:

Kaur, Parneet;
Sharma, Suvasini;
Kadavigere, Rajagopal;
Girisha, Katta Mohan;
Shukla, Anju

Publication type:

Article

Non-steroidal Anti-inflammatory Drug Induced Duodenal Diaphragm Managed with Endoscopic Dilation.

Published in:

Tropical Gastroenterology, 2020, v. 41, n. 2, p. 99

By:

Gupta, Ankur;
Sonkar, Devendra;
Shukla, Anju

Publication type:

Article

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

Published in:

Congenital Anomalies, 2019, v. 59, n. 1, p. 26, doi. 10.1111/cga.12285

By:

Salian, Smrithi;
Nampoothiri, Sheela;
Shukla, Anju;
Girisha, Katta M.

Publication type:

Article

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

Published in:

Congenital Anomalies, 2018, v. 58, n. 5, p. 181, doi. 10.1111/cga.12275

By:

Galada, Chelna;
Hebbar, Malavika;
Lewis, Leslie;
Soans, Santosh;
Kadavigere, Rajagopal;
Srivastava, Anshika;
Bielas, Stephanie;
Girisha, Katta M.;
Shukla, Anju

Publication type:

Article

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

Published in:

Congenital Anomalies, 2017, v. 57, n. 3, p. 83, doi. 10.1111/cga.12188

By:

Nayak, Shalini S.;
Salian, Smrithi;
Shukla, Anju;
Mathew, Mary;
Girisha, Katta M.

Publication type:

Article

Congenital omphalocele and cleft palate in two fetuses.

Published in:

2016

By:

Upadhyay, Neha;
Pai, Muralidhar V;
Nayak, Shalini S;
Girisha, Katta M;
Shukla, Anju

Publication type:

Other

Spectrum of urorectal septum malformation sequence.

Published in:

Congenital Anomalies, 2016, v. 56, n. 3, p. 119, doi. 10.1111/cga.12149

By:

Shah, Krupa;
Nayak, Shalini S.;
Shukla, Anju;
Girisha, Katta M.

Publication type:

Article

What does fetal autopsy unmask in oligohydramnios?

Published in:

2016

By:

Nayak, Shalini S.;
Shukla, Anju;
Kodandapani, Sreelakshmi;
Adiga, Prashanth K.;
Girisha, Katta M.

Publication type:

journal article

Hemorrhage in long segment cervical schwannoma; case report and literature review.

Published in:

Surgical Neurology International, 2020, v. 12, p. 1, doi. 10.25259/SNI_833_2020

By:

Singh, Prashant Raj;
Nayak, Nitish;
Gupta, Surendra Kumar;
Sharma, Raghavendra Kumar;
Shukla, Anju;
Nehete, Lokesh Suresh

Publication type:

Article

Novel ALOX 12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis.

Published in:

Indian Journal of Dermatology, 2016, v. 61, n. 1, p. 116, doi. 10.4103/0019-5154.174134

By:

Salian, Smrithi;
Gupta, Ashish;
Shukla, Anju;
Girisha, Katta M.

Publication type:

Article

Secondary Membranous Nephropathy and Immunodeficiency due to a Novel Biallelic Variant in CARMIL2.

Published in:

Indian Journal of Nephrology, 2024, v. 34, n. 6, p. 1, doi. 10.25259/ijn_542_23

By:

Rao, Lakshmi Priya;
Kothiwale, Vishaka;
Radhakrishnan, Periyasamy;
Rangaswamy, Dharshan;
Shukla, Anju;
Bhat, Vivekananda

Publication type:

Article

Developmental delay and assessment in an infant with PCWH syndrome: A case report.

Published in:

Annals of Movement Disorders, 2023, v. 6, n. 2, p. 96, doi. 10.4103/aomd.aomd_34_22

By:

Kumar, Ashna;
do Rosario, Michelle;
Siddiqui, Shahyan;
Garg, Divyani;
Shukla, Anju;
Sharma, Suvasini

Publication type:

Article

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

Published in:

Ophthalmic Genetics, 2017, v. 38, n. 6, p. 533, doi. 10.1080/13816810.2017.1301967

By:

Somashekar, Puneeth H.;
Shukla, Anju;
Girisha, Katta M.

Publication type:

Article

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

Published in:

BMC Research Notes, 2017, v. 10, p. 1, doi. 10.1186/s13104-017-2556-2

By:

Zhang, Jimmy F.;
James, Francis;
Shukla, Anju;
Girisha, Katta M.;
Paciorkowski, Alex R.

Publication type:

Article

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Published in:

European Journal of Neurology, 2025, v. 32, n. 1, p. 1, doi. 10.1111/ene.70025

By:

Degoutin, Manon;
Angelini, Chloé;
Bar, Claire;
El Khedoud, Wahiba Amer;
Barnerias, Christine;
Boulariah‐Hadjou, Razika;
Estiar, Mehrdad A.;
Ewenczyk, Claire;
Gan‐Or, Ziv;
Lacombe, Didier;
Lefeuvre, Claire;
Majethia, Purvi;
Messaoud‐Khelifi, Mouna;
Narayanan, Dhanya Lakshmi;
Rouleau, Guy A.;
Suchowersky, Oksana;
Shukla, Anju;
Guillaud‐Bataille, Marine;
Stevanin, Giovanni;
Goizet, Cyril

Publication type:

Article

Urinary myiasis by Psychoda albipennis.

Published in:

2024

By:

Siddiqui, Areena H.;
Shukla, Anju

Publication type:

Letter

COVID-19 reactivating CMV or CMV complicating COVID-19: A need to conquer.

Published in:

Indian Journal of Pathology & Microbiology, 2023, v. 66, n. 3, p. 671, doi. 10.4103/ijpm.ijpm_211_22

By:

Siddiqui, Areena Hoda;
Shukla, Anju;
Yadav, Dayaram

Publication type:

Article

Secretory carcinoma of breast: A diagnostic dilemma.

Published in:

2020

By:

Shukla, Anju;
Arshad, Farah;
Naseem, Iqbal

Publication type:

Case Study

Embryonal carcinoma testis with extensive metastasis and IVC thrombosis.

Published in:

2019

By:

Shukla, Anju;
Chowdhury, Debnandan;
Mahendru, Vibhor

Publication type:

Case Study

Interference of hemoglobin D Punjab on measurements of glycated hemoglobin.

Published in:

2015

By:

Shukla, Anju;
Dabadghao, Sunil;
Gupta, Surbhi;
Verma, Sunil

Publication type:

journal article

Central nervous system mycosis: Analysis of 10 cases.

Published in:

Indian Journal of Pathology & Microbiology, 2014, v. 57, n. 4, p. 591, doi. 10.4103/0377-4929.142678

By:

Shukla, Anju;
Bansal, Megha;
Husain, Mazhar;
Chhabra, Devendra Kumar

Publication type:

Article

Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A.

Published in:

Neurogenetics, 2024, v. 25, n. 2, p. 85, doi. 10.1007/s10048-024-00743-1

By:

Kaur, Namanpreet;
Arora, Khyati;
Radhakrishnan, Periyasamy;
Narayanan, Dhanya Lakshmi;
Shukla, Anju

Publication type:

Article

Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.

Published in:

Neurogenetics, 2023, v. 24, n. 2, p. 113, doi. 10.1007/s10048-023-00712-0

By:

Sait, Haseena;
Srivastava, Somya;
Pandey, Manmohan;
Ravichandran, Deepak;
Shukla, Anju;
Mandal, Kausik;
Saxena, Deepti;
Shambhavi, Arya;
Majethia, Purvi;
Rao, Lakshmi Priya;
Sharma, Suvasini;
Phadke, Shubha R.;
Moirangthem, Amita

Publication type:

Article

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

Published in:

Archives of Gynecology & Obstetrics, 2013, v. 287, n. 2, p. 375, doi. 10.1007/s00404-012-2557-2

By:

Parveen, Farah;
Shukla, Anju;
Agrawal, Suraksha

Publication type:

Article

Status of 25-hydroxyvitamin D deficiency and effect of vitamin D receptor gene polymorphisms on bone mineral density in thalassemia patients of North India.

Published in:

Hematology, 2012, v. 17, n. 5, p. 291, doi. 10.1179/1607845412Y.0000000017

By:

Singh, Kritanjali;
Kumar, Ravindra;
Shukla, Anju;
Phadke, Shubha R.;
Agarwal, Sarita

Publication type:

Article

Synthesis, spectroscopic characterization and Antibacterial screening of some new cefotaxime sodium derivatives.

Published in:

Arabian Journal of Chemistry, 2019, v. 12, n. 8, p. 2133, doi. 10.1016/j.arabjc.2014.12.031

By:

Joshi, Sheela;
Shukla, Anju;
Jhala, Rahul Singh

Publication type:

Article

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

Published in:

Prenatal Diagnosis, 2015, v. 35, n. 7, p. 685, doi. 10.1002/pd.4592

By:

Nayak, Shalini S.;
Shukla, Anju;
Lewis, Leslie;
Kadavigere, Rajagopal;
Mathew, Mary;
Adiga, Prashanth K.;
Vasudeva, Akhila;
Kumar, Pratap;
Shetty, Jyothi;
Shah, Hitesh;
Girisha, Katta M.

Publication type:

Article

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.

Published in:

Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-020-01158-w

By:

Sheikh, Taimoor I.;
Vasli, Nasim;
Pastore, Stephen;
Kharizi, Kimia;
Harripaul, Ricardo;
Fattahi, Zohreh;
Pande, Shruti;
Naeem, Farooq;
Hussain, Abrar;
Mir, Asif;
Islam, Omar;
Girisha, Katta Mohan;
Irfan, Muhammad;
Ayub, Muhammad;
Schwarzer, Christoph;
Najmabadi, Hossein;
Shukla, Anju;
Sladky, Valentina C.;
Braun, Vincent Zoran;
Garcia-Carpio, Irmina

Publication type:

Article

Genetic Links to Episodic Movement Disorders: Current Insights.

Published in:

Application of Clinical Genetics, 2023, v. 16, p. 11, doi. 10.2147/TACG.S363485

By:

Garg, Divyani;
Mohammad, Shekeeb;
Shukla, Anju;
Sharma, Suvasini

Publication type:

Article

Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.

Published in:

Human Genetics, 2025, v. 144, n. 1, p. 55, doi. 10.1007/s00439-024-02718-6

By:

Kakar, Naseebullah;
Mascarenhas, Selinda;
Ali, Asmat;
Azmatullah;
Ijlal Haider, Syed M.;
Badiger, Vaishnavi Ashok;
Ghofrani, Mobina Shadman;
Kruse, Nathalie;
Hashmi, Sohana Nadeem;
Pozojevic, Jelena;
Balachandran, Saranya;
Toft, Mathias;
Malik, Sajid;
Händler, Kristian;
Fatima, Ambrin;
Iqbal, Zafar;
Shukla, Anju;
Spielmann, Malte;
Radhakrishnan, Periyasamy

Publication type:

Article