Results 31 to 40 of about 269,697 (252)

Osteopetrosis: A rare case

Annals of Medical Science and Research, 2022
Osteopetrosis is a rare inherited metabolic bone disease characterized by failure of osteoclasts to resorb bone leading to impairment of bone modeling and remodeling.
Niladri Das, Pranab Kumar Sahana, Silima Subhasnigdha Tarenia, Prashant Manohar Gaikwad, Arjun Baidya, Nilanjan Sengupta, Soumik Goswami   +6 more
doaj   +1 more source

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization [PDF]

, 2012
Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity ...
Gileadi, Opher, Cooper, Christopher D O, Twigg, SR, Beales, PL, McGowan, SJ, Gileadi, O, Jenkins, Dagan, Lloyd, D, Gillessen-Kaesbach, G, Hüning, I, Elçioglu, Nursel E., Hüning, Irina, Wilkie, Andrew O.M., Twigg, Stephen R F, Annagür, Ali, Knight, Samantha, Goodship, JA, Knight, Samantha J L, Cooper, CD, Gillessen-Kaesbach, Gabriele, Jenkins, D, Knight, Samantha J.L., Knight, SJ, Wilkie, AOM, McGowan, Simon J., Twigg, SRF, Beales, Philip L., Lloyd, Deborah, Wilkie, Andrew O M, Al-Sannaa, N, Al-Sannaa, Nouriya, Annagür, A, Twigg, Stephen R.F., Keavney, Bernard D., Knight, SJL, Cooper, CDO, Cooper, Christopher D.O., Elçioglu, NE, Goodship, Judith A., Keavney, BD, Wilkie, AO, Twigg, Stephen R. F., Elçioglu, Nurse E., ELÇİOĞLU, HURİYE NURSEL, J.L. Knight, Samantha, Cooper, Christopher D. O.   +45 more
core   +1 more source

Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

Acta Oto-Laryngologica Case Reports, 2017
GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal ...
Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Shin-Ya Nisio, Nobuhiko Oridate, Shin-Ichi Usami   +5 more
doaj   +1 more source

Hereditary tubulopathies including the associated bone disease

Regulatory Mechanisms in Biosystems, 2018
Tubulopathy is a heterogeneous group of diseases combined by the nephron functions disorders of one or more enzyme proteins in the tubular epithelium that cease to function as a reabsorption of one or several substances filtered from the blood through ...
M. O. Ryznychuk, T. V. Khmara, M. I. Kryvchanska, I. I. Zamorskii   +3 more
doaj   +1 more source

Hereditary tubulopathies accompanying polyuia

Regulatory Mechanisms in Biosystems, 2021
Tubulopathies are a group of heterogeneous diseases that are manifested in the malfunction of the renal tubules. This review addresses tubulopathies associated with polyuria syndrome, namely renal glucosuria syndrome, nephrogenic diabetes insipidus and ...
M. O. Ryznychuk, V. P. Pishak, N. V. Bacyuk-Ponych, O. V. Pishak   +3 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

BMC Neurology, 2011
Background Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date.
Mir Asif, Mahmood Saqib, Basit Sulman, Khan Bushra, Hassan Muhammad, Kousar Rizwana, Ahmad Wasim, Ansar Muhammad   +7 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Current view on phenotypic and genetic features of autosomal recessive inherited peripheral neuropathies

Анналы клинической и экспериментальной неврологии, 2019
Inherited peripheral neuropathies (IPNs) are a heterogeneous group of hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies, and hereditary sensory neuropathies.
Aysylu F. Murtazina, Olga A. Shchagina, Sergey S. Nikitin, Elena L. Dadali, Alexander V. Polyakov   +4 more
doaj   +1 more source

A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability

Frontiers in Psychiatry, 2020
The large majority of cases with intellectual disability are syndromic (i.e. occur with other well-defined clinical phenotypes) and have been studied extensively.
Babylakshmi Muthusamy, Babylakshmi Muthusamy, Babylakshmi Muthusamy, Anikha Bellad, Anikha Bellad, Anikha Bellad, Pramada Prasad, Aravind K. Bandari, Aravind K. Bandari, Aravind K. Bandari, G. Bhuvanalakshmi, R. M. Kiragasur, Satish Chandra Girimaji, Akhilesh Pandey, Akhilesh Pandey, Akhilesh Pandey, Akhilesh Pandey   +16 more
doaj   +1 more source