Results 131 to 140 of about 2,432,528 (230)

MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome [PDF]

, 2011
There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of ...
Inusha Panigrahi, Ram Kumar Marwaha, Sheetal Sharda   +2 more
core   +1 more source

Bardet–Biedl Syndrome: Delayed Diagnosis in a 14-Year-Old Child with End-Stage Renal Disease [PDF]

, 2023
Mohammad Rasel, Ashif Istiak, Afra Saiara, Abdullah Al‐Jubair, Shariful Matin, Gobinda Roy   +5 more
openalex   +1 more source

NPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrence [PDF]

, 1926
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.BackgroundMutations of NPHS2 are causative in familial autosomal-recessive (AR) and sporadic steroid-resistant nephrotic ...
Weber, Stefanie, Gribouval, Olivier, Esquivel, Ernie L., Morinière, Vincent, Tête, Marie-Josèphe, Legendre, Christophe, Niaudet, Patrick, Antignac, Corinne   +7 more
core   +1 more source

Urine concentrating defect as presenting sign of progressive renal failure in Bardet–Biedl syndrome patients [PDF]

, 2020
Miriam Zacchia, Francesca Del Vecchio Blanco, Annalaura Torella, Raffaele Raucci, Giancarlo Blasio, Maria Elena Onore, Emanuela Marchese, Francesco Trepiccione, Caterina Vitagliano, Valentina Di Iorio, Perna Alessandra, Francesca Simonelli, Vincenzo Nigro, Giovambattista Capasso, Davide Viggiano   +14 more
openalex   +1 more source

Bardet–Biedl syndrome: A case report

Annals of Medical Science and Research
Bardet–Biedl syndrome is a rare autosomal recessive disorder, categorized with ciliopathy (non-motile) disorders, which affect multiple systems. We diagnosed this rare syndrome in an adult male with a history of blindness, who presented with abdominal ...
Aakash Pandey, Prashasti Gupta, Priya Bansal, Ramesh Aggarwal, Motilal Negi   +4 more
doaj   +1 more source

A rare case of obesity. Can it be Bardet‐Biedl Syndrome?

Clinical Case Reports, 2019
Bardet‐Biedl Syndrome (BBS) is a rare autosomal recessive disorder with a wide spectrum of clinical manifestations like retinal dystrophy, obesity, polydactyly, mental retardation, hypogonadism, and renal dysfunction.
Sandeep Shrestha, Nagendra Chaudhary
doaj   +1 more source

Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis: A Case Report and A Review of a Cohort of BBS Patients [PDF]

, 2012
Ugur Halac, Denise Herzog
openalex   +1 more source

Kidney involvement in Bardet-Biedl syndrome: urinary concentrating defects highlight the major role of primary cilium in water reabsorption [PDF]

, 2012
Charlie De Melo, Anaïs Mockel, Corinne Stoetzel, Vincent Marion, Hélène Dollfus   +4 more
openalex   +1 more source

The Bardet-Biedl Syndrome complex component BBS1 regulates proteasome-dependent F-actin clearance from the centrosome to enable its translocation to the T cell immune synapse [PDF]

, 2020
Chiara Cassioli, Anna Onnis, Francesca Finetti, Nagaja Capitani, Ewoud B. Compeer, Michael L. Dustin, Cosima T. Baldari   +6 more
openalex   +1 more source

A Case Report of Bardet Biedl Syndrome in a Patient from Pakistan who Presented with Osmotic Symptoms associated with Diabetes Mellitus

International Journal of Medical Students
Background: The primary features of Bardet Biedl syndrome (BBS) are characterized by retinal degeneration, central obesity, post-axial polydactyly, intellectual impairment, hypogonadism, and renal anomalies.
Bakht Babar, Muqsit Ali Shaukat, Misbah Manzoor, Samina Bibi, Hashim Khan   +4 more
doaj   +1 more source