Results 11 to 20 of about 99,876 (350)

Beauty and ugliness as endocrine pathology: a look through the prism of history and art

Клинический разбор в общей медицине, 2023
Throughout history, people have reacted differently to various physical abnormalities that develop in the absence of treatment and progression of diseases of the endocrine system. From antiquity until relatively recently, some manifestations of endocrine
Kseniya O. Samsonova
doaj   +1 more source

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome [PDF]

, 2012
A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel Syndrome (SS). Here, we provide the first identification of a Seckel Syndrome patient with mutations
A Ciccia, A Klingseisen, A Rauch, A. Malcolm R. Taylor, AD Borglum, Andrew O. M. Wilkie, D Cortez, DL Guernsey, E Griffith, E Kalay, EA Nam, Emma Hobson, EN Noensie, F Majewski, Gillian Carpenter, GK Alderton, GK Thornton, Grant S. Stewart, HL Ball, IM Ward, J Falck, J Goodship, JG Hall, Katrina Prescott, L Zou, LI Toledo, LS Bicknell, LS Bicknell, M Murga, M O'Driscoll, M Willems, Margaret Barrow, Mark O'Driscoll, Michiko Matsuse, Mohnish Suri, MS Al-Dosari, ND Lakin, Norisato Mitsutake, P Qvist, Penny A. Jeggo, Philip J. Byrd, PR Andreassen, Pradeep Vasudevan, RA Chanoux, RJ Gorlin, SA de Munnik, Sarah Walker, Siripan Limsirichaikul, Tom Stiff, Tomoo Ogi, V Paciotti, Y Namiki, Yuka Nakazawa   +52 more
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Emergency cesarean section for obstructed labor with intrauterine fetal death in an achondroplastic dwarf: a case report

Bali Journal of Anesthesiology, 2023
Though cesarean section is one of the most common surgeries performed in obstetrics, there is a lack of consensus on the anesthetic approach to the management of achondroplastic women during this surgery.
Julian Ojebo, Ifeanyichukwu Micheal Chukwu, Salami Ezekiel Kelvin, Ezeife Benedict, Christian Osemudiamen Igibah, Choice Ehimare   +5 more
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Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7 [PDF]

, 2016
Background: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back ...
Back, Willem, Bastiaansen, John WM, Boegheim, Iris J, Dibbits, Bert W, Ducro, Bart J, Hellinga, Ids, Leegwater, Peter A, Monroe, Glen R, Nijman, Isaac J, Schurink, Anouk, van de Goor, Leanne H, van Steenbeek, Frank G, Vos-Loohuis, Manon   +12 more
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Schwartz–jampel syndrome: Clinical and diagnostic phenotype of a rare genetic disorder

Archives of Medicine and Health Sciences, 2016
The distinctive phenotypic, clinical, skeletal characteristics with the typical electrophysiological features of an 11-year-old male child who presented to the neurology outpatient service are described, with the objective of emphasizing the diagnostic ...
Bhaskara P Shelley, U S Vinayaka
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Agronomic potential of BC1F2 dwarf round tomato populations [PDF]

Ciência e Agrotecnologia, 2020
The use of dwarf lines to obtain mini-tomato hybrids has provided agronomic and economic benefits. In Brazil, round tomatoes predominate over other varieties.
Rafael Resende Finzi, Gabriel Mascarenhas Maciel, Hugo Gabriel Peres, Marina Freitas e Silva, Joicy Vitória Miranda Peixoto, Danilo Araújo Gomes   +5 more
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Orofacial manifestations of congenital hypothyroidism: Clinicoradiological case report

Journal of Indian Academy of Oral Medicine and Radiology, 2014
Thyroid disorders have a widespread effect on the ossification of cartilage, growth of teeth, facial contour, and overall body proportions. Both growth hormones and thyroid hormones show permissive action on growth stimulation.
Gundareddy N Suma, Manisha Lakhanpal, Manu Dhillon, Siddharth Srivastava   +3 more
doaj   +1 more source

Phytohormone Profiling Method for Rice: Effects of GA20ox Mutation on the Gibberellin Content of Japonica Rice Varieties

Frontiers in Plant Science, 2019
Gibberellins (GAs) are a very important group of phytohormones involved in seed germination, vegetative growth, flowering, and fruit development, being only 4 of the 136 known bioactives: GA1, GA3, GA4, and GA7.
Camilo López-Cristoffanini, Xavier Serrat, Olga Jáuregui, Salvador Nogués, Marta López-Carbonell   +4 more
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Congenital microcephaly [PDF]

, 2014
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a ...
Agha, Ahmad, Arai, Banin, Bettencourt-Dias, Bicknell, Bicknell, Bolanos-Garcia, Bond, Bongers, Buchman, Caldecott, Caldecott, Capo-Chichi, Carney, Casey, Cimprich, Cizmecioglu, Croteau, Dehay, Dehay, Deriano, Domchek, Fish, Gatz, Gellert, Genin, Gilmore, Gineau, Gorlin, Griffith, Gruber, Guernsey, Han, Hanks, Heldin, Hemerly, Herzog, Heyer, Hickson, Hinchcliffe, Hughes, Issa, Jaglin, Jamieson, Kang, Kee, Kerzendorfer, Kim, Kiyomitsu, Kiyomitsu, Koch, Kumagai, Kuo, Lancaster, Lavin, Lee, Lee, Lee, Lobrich, Loveday, Loveday, Mahmood, Maréchal, Matsumoto, Matsuoka, Matsuura, Meindl, Mimitou, Mirzaa, Miyoshi, Miyoshi, Moldovan, Morris-Rosendahl, Moshous, Moynahan, Murga, Murray, Musacchio, Mühlhans, Noguchi, Novorol, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Ogi, Orii, Pilaz, Poirier, Ponting, Qvist, Rakic, Rauch, Riballo, Romaniello, Roos, Rudner, Schneider, Shah, Shaheen, Shaheen, Shamseldin, Shen, Shiloh, Sir, Sirbu, Sokka, Spalding, Spassky, Stewart, Stiff, Stokes, Symington, Tan, Thornton, van der Burg, van der Lelij, Varon, Verloes, Walczak, Waltes, Weedon, Weinfeld, Woodbine, Woods, Wu, Zimmerman   +129 more
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Thanatophoric Dwarfism [PDF]

Journal of Medical Genetics, 1973
A review of the radiographs of children previously classified as achondroplasiacs revealed six thanatophoric dwarfs. The main radiological differentiating features were the greater degree of shortening of the long bones, including the fibula, the curvature of the femora, the very small size of the thorax and, particularly, the very narrow ossified ...
K, Shah, R, Astley, A H, Cameron
openaire   +2 more sources