Results 71 to 80 of about 2,447,712 (252)

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees

Genes, 2023
This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. A total of 12 affected families were enrolled. Clinical investigations were performed to access the BBS-associated phenotypes.
A. R. Rao, A. Nazir, Samina Imtiaz, S. A. Paracha, Y. M. Waryah, I. Ujjan, Ijaz Anwar, Afia Iqbal, F. Santoni, Inayat Shah, Khitab Gul, Hafiz Muhammad Azhar Baig, A. Waryah, S. Antonarakis, Muhammad Ansar   +14 more
semanticscholar   +1 more source

Bardet‐Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best‐practice management

Diabetes, obesity and metabolism
Bardet‐Biedl syndrome (BBS) is a genetic disorder characterized by early‐onset obesity, polydactyly, genital and kidney anomalies, developmental delay and vision loss due to rod‐cone dystrophy.
A. Shoemaker
semanticscholar   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Assessment of genetic variation(s) in BBS10, BBS6, and BBS12 in a family from Sindh, Pakistan diagnosed with Bardet-Biedl Syndrome

Journal of the Pakistan Medical Association
Objective: To analyse the symptoms of Bardet-Biedl Syndrome, and to check the association of BBS10 (Bardet-Biedl syndrome 10 gene), BBS6 (Bardet-Biedl syndrome 6 gene) and BBS12 (Bardet-Biedl syndrome 12 gene) with the pathogenesis of Bardet-Biedl ...
Sehrish Fatima, Maryam Amjad, Faiza Zehra, Khalid Sher, Suneel Kumar, Saima Saleem, Sitwat Zehra   +6 more
doaj   +1 more source

Bardet-Biedl syndrome

Bangabandhu Sheikh Mujib Medical University Journal, 2016
The Bardet-Biedl syndrome is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, polydactyly, central obesity, mental ...
Mujammel Haque, Md. Fakhrul Alam, Suraiya Begum, Shahana A. Rahman   +3 more
doaj   +1 more source

BARDET-BIEDL SYNDROME – CASE PRESENTATION [PDF]

Romanian Journal of Pediatrics, 2015
Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight ...
Sorin Ioan Iurian, Heleen Arts, Han Brunner, Dana Fintina   +3 more
doaj   +1 more source

Characterizing the morbid genome of ciliopathies [PDF]

, 2016
Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome ...
A Poretti, AM Fry, AM Waters, Amal Al Hashem, Anas M. Alazami, Anason Halees, Andre Megarbane, Basudha Basu, Brahim Tabarki, C Bergmann, C Knopp, C Wright, CJ Westlake, Clare V. Logan, Colin A. Johnson, DA Parfitt, David A. Parry, Dorota Monies, DU Mick, Eissa Faqeih, F Tissir, Firdous M. Abdulwahab, Fowzan S. Alkuraya, FS Alkuraya, FS Alkuraya, FS Alkuraya, G Wheway, Hadeel Alsharif, Heba Morsy, Hisham Alkuraya, K Szymanska, Karsten Boldt, Katarzyna Szymanska, KB Schou, KL Coene, L Abu-Safieh, L Baala, L Sang, M Toriyama, MA Parisi, Maha Alnemer, Mais Hashem, Marius Ueffing, MG Saudi, MH Farkas, Mohamed Abouelhoda, Mohamed El-Kalioby, Mohammed A. Aldahmesh, Mohammed Al-Owain, Mohammed Zain Seidahmed, MS Zaki, Muneera Al-Husain, Mustafa A. Salih, MV Nachury, Nada Al Tassan, Nada Derar, Neama Meriki, Niema Ibrahim, Nisha Patel, Nour Ewida, P Beales, R Rao Damerla, R Roepman, R Shaheen, Ranad Shaheen, Rawda Sonbul, S Ramsbottom, Saad AlShahwan, Saeed Al Tala, SM Ware, SP Choksi, T Ben‐Omran, Tariq Faquih, TJ Dam van, Y Muto, ZA Abdelhamed   +75 more
core   +1 more source

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome

Genes, 2023
Bardet–Biedl syndrome (BBS) is a rare clinically and genetically heterogeneous autosomal recessive multi-systemic disorder with 22 known genes. The primary clinical and diagnostic features include six different hallmarks, such as rod–cone dystrophy ...
Hamed Nawaz, Mujahid, S. A. Khan, Farhana Bibi, Ahmed Waqas, Abdul Bari, Fardous, Niamat Khan, Nazif Muhammad, Amjad Khan, S. A. Paracha, Q. Alam, M. A. Kamal, Misbahudin Rafeeq, Noor Muhammad, Fayazul Haq, Shazia Khan, Arif Mahmood, Saadullah Khan, M. Umair   +19 more
semanticscholar   +1 more source

Large‐language‐models for pediatric diagnosis: Performance evaluation using real‐world clinical notes from common and rare cases

Pediatric Investigation, EarlyView.
• Advanced large language models exhibited superior diagnostic accuracy compared to clinicians, particularly for rare diseases, with Claude‐3.5 Sonnet and o1‐preview demonstrating the highest consistency between query iterations. ABSTRACT Importance Rigorous evaluation of large language models (LLMs) in pediatric diagnosis using authentic clinical ...
Cristian Launes, Paula Esteller‐Cucala, Marina Alvarez‐Estape, Ivan Cano, Rosa Pino, Carla González‐Grado, Andrea Aldemira‐Liz, Javier Logroño, Carlos Mascías, Juanjo do‐Olmo, Julián Isla, Yolima Cossio, Francesc Garcia‐Cuyas   +12 more
wiley   +1 more source

Early diagnosis of Bardet-Biedl syndrome associated with obesity

Ожирение и метаболизм, 2008
One of the urgent problems of modern health care is the increase in the prevalence of obesity among children and adolescents. Late diagnosis and delayed initiation of treatment lead to serious complications such as hypertension, type 2 diabetes mellitus.

doaj   +1 more source