Results 41 to 50 of about 11,428 (200)

Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]

, 2019
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A, Calcagni, G, Dallapiccola, B, De Luca, A, Dentici, M L, Digilio, M C, Marino, B, Pugnaloni, F, Tartaglia, M, Versacci, P   +9 more
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A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy [PDF]

, 2017
Progressive retinal atrophy is a common cause of blindness in the dog and affects >100 breeds. It is characterized by gradual vision loss that occurs due to the degeneration of photoreceptor cells in the retina. Similar to the human counterpart retinitis
Bathgate, Roslyn, Chew, Tracy, Haase, Bianca, Kaukonen, Maria K., Lohi, Hannes T., Mascord, Lisa J., Wade, Claire M., Willet, Cali E.   +7 more
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Hirschsprung disease, associated syndromes and genetics: A review [PDF]

, 2008
Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births.
Amiel, J, Antinolo, G, Arnold, S, Borrego, S, Brooks, AS, Burzynski, G, Ceccherini, I, Chakravarti, A, ClementZiza, M, De Pontual, L, Fernandez, R, GarciaBarcelo, M, Griseri, P, Hofstra, RMW, Kashuk, C, Lantieri, F, Lyonnet, S, Miao, X, Munnich, A, Pelet, A, SproatEmison, E, Tam, PKH, West, K, Wong, KKY   +23 more
core   +5 more sources

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

Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model [PDF]

, 2014
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous inherited human disorder displaying a pleotropic phenotype. Many of the symptoms characterized in the human disease have been reproduced in animal models carrying deletions or knock-in mutations ...
A Amador-Arjona, A Biedl, AJ Ross, AV Loktev, C Peyron, C Rooryck, Candice Askwith, CS Carter, D Paré, DY Nishimura, ER Eichers, ES Seeley, G Keryer, GA Bishop, H Jin, HA Praetorius, IR Veland, J Yang, J Yang, J Yang, J. Patrick Card, JE Ledoux, JL Badano, JL Rosenbaum, JZ Laurence, K Baker, K Baker, K Keppler-Noreuil, K Mykytyn, K Rahmouni, Kamal Rahmouni, Karina E. Steren, Khristofor Agassandian, M Fliegauf, MA Fath, Marianna Agassandian, Milan Patel, MR Leroux, MV Nachury, N Kumamoto, NF Berbari, P Sah, PL Beales, RE Davis, RE Swiderski, RE Watson Jr, RN Cardinal, S Barnett, S Massinen, S Seo, S Zola-Morgan, SM Guadiana, ST Wong, SY Shu, Val C. Sheffield, X Chamling, Z Wang   +56 more
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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

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome

Case Reports in Ophthalmological Medicine, 2022
Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies.
Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi   +3 more
doaj   +1 more source

Generation of a human iPSC line from a Bardet-Biedl syndrome patient compound heterozygous for the BBS7 variants c.849 + 1G > C/c.754G > A

Stem Cell Research, 2021
Bardet-Biedl syndrome (BBS) is primarily a multisystem nonmotile ciliopathy. In this study, we describe the successful establishment and characterization of an iPSC line from a patient diagnosed with BBS who was compound heterozygous for the BBS7 ...
Qian Fu, Hui Wang, Nan Zhou, Yeping Jiang, Ying Liang, Fan Duan, Lan Mi   +6 more
doaj   +1 more source

Laparoscopic sleeve gastrectomy in adolescents with or without syndromic obesity: two years follow-up [PDF]

, 2017
Introduction Childhood obesity is an emerging health problem. Surgical treatment of obese adolescents, particularly those affected by congenital syndrome, represents a controversial issue.
ABBATINI, FRANCESCA, Brad Michael Watkins,, Emanuela Ceriati,, Francesco De Peppo,, IOSSA, ANGELO, Romina Caccamo,, SILECCHIA, Gianfranco   +6 more
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Bardet-Biedl syndrome. [PDF]

Australian journal of ophthalmology, 1984
The Bardet-Biedl syndrome is characterized by five main features: obesity, polydactyly, pigmentary retinopathy, mental deficiency and hypogonadism; recently a sixth feature, renal disease, has been described. It was formerly known as the Laurence-Moon-Biedl syndrome, but Laurence and Moon described a different entity in which the main feature was ...
openaire   +3 more sources