Works by Siddiqui, Shahyan

Results: 12

Traumatic Pseudoaneurysm of Middle Meningeal Artery with Delayed Presentation as Intracerebral Hematoma: A Report with Review of Literature.

Published in:

2021

By:

Kulanthaivelu, Karthik;
Siddiqui, Shahyan;
Prasad, Chandrajit;
Shashidhar, Abhinith;
Siddiqui, Shahyan Mohsin

Publication type:

Case Study

Embolectomy by SOLUMBRA Technique for Nontarget Intracranial Glue Migration- Complication and Bailout after Percutaneous Embolization of Orbital Meningioma.

Published in:

2021

By:

Chauhan, Richa;
Prasad, Chandrajit;
Siddiqui, Shahyan;
Srinivas, Dwarakanath;
Chauhan, Richa Singh;
Siddiqui, Shahyan M

Publication type:

journal 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

Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 95, doi. 10.3233/JND-200628

By:

Siddiqui, Shahyan;
Polavarapu, Kiran;
Bardhan, Mainak;
Preethish-Kumar, Veeramani;
Joshi, Aditi;
Nashi, Saraswati;
Vengalil, Seena;
Raju, Sanita;
Chawla, Tanushree;
Leena, Shingavi;
Mathur, Aradhana;
Nayak, Sushmita;
Mohan, Dhaarini;
Shamim, Uzma;
Prasad, Chandrajit;
Lochmüller, Hanns;
Faruq, Mohammed;
Nalini, Atchayaram

Publication type:

Article

Computed tomography coronary angiography diagnosis of single right coronary artery with congenital absence of left coronary artery system equivalents.

Published in:

Indian Journal of Radiology & Imaging, 2016, v. 26, n. 2, p. 198, doi. 10.4103/0971-3026.184406

By:

Siddiqui, Shahyan Mohsin;
Rao, R. C. Kesava;
Kaza, Sashidhar;
Kumar, E. A. Padma

Publication type:

Article

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63914

By:

Kaur, Namanpreet;
do Rosario, Michelle C.;
Majethia, Purvi;
Mascarenhas, Selinda;
Rao, Lakshmi Priya;
Nair, Karthik Vijay;
Hunakunti, Bhagesh;
Prasannakumar, Adarsh Pooradan;
Naik, Rohit;
Narayanan, Dhanya Lakshmi;
Nayak, Shalini S.;
Bhat, Vivekananda;
Sharma, Suvasini;
Ramesh Bhat, Y.;
Yatheesha, B. L.;
Kulkarni, Rajesh;
Patil, Siddaramappa J.;
Nampoothiri, Sheela;
Siddiqui, Shahyan;
Girisha, Katta Mohan

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

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

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

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

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Published in:

Brain: A Journal of Neurology, 2024, v. 147, n. 12, p. 4033, doi. 10.1093/brain/awae299

By:

Werren, Elizabeth A;
Bey, Guillermo Rodriguez;
Majethia, Purvi;
Kaur, Parneet;
Patil, Siddaramappa J;
Kekatpure, Minal V;
Afenjar, Alexandra;
Qebibo, Leila;
Burglen, Lydie;
Tomoum, Hoda;
Demurger, Florence;
Duborg, Christele;
Siddiqui, Shahyan;
Tsan, Yao-Chang;
Abdullah, Uzma;
Ali, Zafar;
Saadi, Saadia Maryam;
Baig, Shahid Mahmood;
Houlden, Henry;
Maroofian, Reza

Publication type:

Article

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.

Published in:

Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. 4202, doi. 10.1093/brain/awac295

By:

Rosario, Michelle C do;
Bey, Guillermo Rodriguez;
Nmezi, Bruce;
Liu, Fang;
Oranburg, Talia;
Cohen, Ana S A;
Coffman, Keith A;
Brown, Maya R;
Kiselyov, Kirill;
Waisfisz, Quinten;
Flohil, Myrthe T;
Siddiqui, Shahyan;
Rosenfeld, Jill A;
Iglesias, Alejandro;
Girisha, Katta Mohan;
Wolf, Nicole I;
Padiath, Quasar Saleem;
Shukla, Anju

Publication type:

Article