Results 121 to 130 of about 2,447,712 (252)

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Partial Atrioventricular Septal Defect in a Case of Bardet-Biedl Syndrome: A Rare Association

Acta Medica Iranica
Bardet-Biedl syndrome (BBS) (MIM 209900) is a genetic disorder with a wide spectrum of clinical manifestations including retinal dystrophy, hypogenitalism, polydactyly, obesity, renal abnormalities and mental retardation. We describe a 13-year-old girl,
Mohaddeseh Behjati, Fatemeh Tohidi, Mohammad Karimian   +2 more
doaj   +1 more source

Centrosomal JAK2 Tyrosine Kinase Regulates Primary Cilia Length, Cell Proliferation, and Cilia Orientation During Cell Migration

The FASEB Journal, Volume 40, Issue 4, 28 February 2026.
Growth hormone (GH) activates GHR at the primary cilium and stimulates centrosomal JAK2. JAK2 centrosomal localization requires both its SH2 domain and kinase activity. Cells expressing JAK2 variants deficient in centrosomal targeting show impaired control of cilia length, reduced proliferation, and cell migration compared with parental and JAK2 WT ...
Gaurab Karki, Lilly Boone, Taylor Klaiber, Trevor Lambert, Brooke Kimball, Bethany Burkhart, Mirella Youssef, Maria Diakonova   +7 more
wiley   +1 more source

Síndroma de Bardet-Biedl.

Acta Médica Portuguesa, 2002
Bardet-Biedl syndrome is a rare disease characterized by pigmentary retinopathy, dysmorphic extremities, obesity, renal abnormalities and hypogonadism only in men.
Luís Siopa, Manuela Grego, Joel Cossa, Alberto Pinguinha   +3 more
doaj   +1 more source

A rare case of Bardet–Biedl syndrome

Taiwan Journal of Ophthalmology, 2020
We report here a rare case of Bardet–Biedl syndrome (BBS). A 7-year-old boy was diagnosed to have BBS based on the clinical features: retinitis pigmentosa sine pigmento, obesity, postaxial polydactyly, syndactyly, and hypogenitalism.
Shrinkhal, Anupam Singh, Ajai Agrawal, Sanjeev Kumar Mittal, Hemlata Udenia, Ghawghawe Harshad Bandu   +5 more
doaj   +1 more source

Motile cilia defects in diseases other than primary ciliary dyskinesia:The contemporary diagnostic and research role for transmission electron microscopy [PDF]

, 2017
Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s.
Afzelius BA, Amelia Shoemark, Hannah M Mitchison, Harrison MJ, Hirst R, Murcia NS, Piorunek T   +6 more
core   +3 more sources

Visual acuity and retinal function in patients with Bardet-Biedl syndrome

Clinics, 2012
OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism.
Adriana Berezovsky, Daniel Martins Rocha, Paula Yuri Sacai, Sung Song Watanabe, Nívea Nunes Cavascan, Solange Rios Salomão   +5 more
doaj   +1 more source

Human genetics and clinical aspects of neurodevelopmental disorders [PDF]

, 2015
This chapter traverses contemporary understandings of the genetic architecture of human disease, and explores the clinical implications of the current state of knowledge.
Abecasis, Abu-Safieh, Ackerman, Aldred, Aldridge, Allain, Allchin, Andreasen, Andreasen, Anney, Bainbridge, Bakker, Bakker, Ball, Bamshad, Barbosa, Bates, Bateson, Batista, Baugher, Beales, Bearn, Beaudet, Berg, Bernal, Berndt, Bianchi, Biesecker, Bittles, Bittles, Blackwood, Bleuler, Bloom, Blount, Boyden, Boyden, Brandt, Brawley, Burga, Cartault, Casanueva, Chaturvedi, Cheng, Chua, Ciancarelli, Comfort, Comfort, Corleto, Coufal, Coulter, Craddock, Crepel, Davis, Derikx, Dickel, Dodd, Dolinoy, Down, Eichenbaum, Eichers, El-Hattab, Elia, Emond, Esvelt, Etheridge, Evans, Fan, Fins, Francke, Frank, Freund, Fu, Fu, Fullston, Gagnon, Gai, Gibson, Gigerenzer, Gigerenzer, Gigerenzer, Girirajan, Girirajan, Goddard, Green, Green, Greenspan, Greenspan, Greenspan, Grillo, Guedj, Guris, Gymrek, Hall, Hamamy, Hamshere, Hansen, Hedges, Hollander, Holmes, Hosoki, Huisman, Hulten, Hume, Hunter, Iascone, Iossifov, Iourov, Jamieson, Jongmans, Jongmans, Jonsson, Kajiwara, Kapusta, Katsanis, Katsanis, Katsanis, Keller, Kendler, Khoddami, Kitzman, Klei, Kohane, Kovaleva, Kraepelin, Kurek, Kurz-Milcke, Lai, Laurier, Leconte, Ledford, Lemmers, Li, Liao, Lichtenstein, Lindhurst, Lindhurst, Lowrance, Lupski, Lupski, Luria, Luria, Lyon, Lyon, Lyon, Lyon, Lyon, Lyon, Lyon, Macosko, Maffei, Maffei, Maffei, Makary, Malhotra, Margari, Mari, Maxmen, McClaren, McClaren, McDonald-McGinn, McGuire, McGuire, McIntyre, Memczak, Mercer, Meyer, Meyer, Miles, Misteli, Mitchell, Mitchell, Miura, Mole, Moreau, Moreno-De-Luca, Moreno-De-Luca, Mukherjee, Mykytyn, Nakane, Neale, Ng, Ng, Nielsen, Nielsen, Ning, Novarino, O'Rawe, O'Roak, O'Roak, Olby, Opitz, Orr, Papageorgiou, Papavassiliou, Parodi, Pauli, Pennacchio, Penrose, Perrat, Peters, Philip, Provine, Radick, Radick, Rand, Ratiu, Refsgaard, Reiss, Rickards, Rickards, Risgaard, Roach, Rosendahl, Sabin, Sacks, Sacks, Salem, Salzman, Sanders, Sanders, Sastry, Sato, Sbidian, Schaaf, Schneider, Scriver, Seguin, Shaikh, Shanske, Shi, Shirley, Slavin, Smaoui, Sokal, Sokal, Sol-Church, Solomon, Sporn, Stalmans, Steinbusch, Sterckx, Styrkarsdottir, Tajir, Tanaka, Tennessen, Terwilliger, Tome, Trevisson, Van Horn, van Swinderen, Velleman, Venancio, Vig, Visscher, Visscher, Vogelstein, Waddington, Waddington, Wang, Ward, Weinhouse, Weiss, Weiss, Weldon, Williams, Williams, Williams, Wilusz, Worthey, Wu, Wuyts, Xu, Yamada, Zimmermann, Zuk, Zumbo   +275 more
core   +1 more source

Genetic architecture of body size in mammals [PDF]

, 2012
Much of the heritability for human stature is caused by mutations of small-to-medium effect.
Goddard, Michael E., Kemper, Kathryn E., Visscher, Peter M.   +2 more
core   +1 more source

Sixth Cardinal Feature of Bardet-Biedl Syndrome in a Child: Cystic Kidney Disease - Case Report

Endocrinology Research and Practice, 2005
The cardinal manifestations of Bardet–Biedl Syndrome are described to include retinal dystrophy, obesity, polydactyly or dysmorphic extremities, mental retardation, and hypogonadism which especially affects boys. Renal involvement has been described as a
Özgür Pirgon, Mehmet Emre Atabek, Ahmet Sert   +2 more
doaj   +2 more sources