Results 11 to 20 of about 7,022 (207)

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
core   +5 more sources

Paleoneuroanatomy of the European lambeosaurine dinosaur Arenysaurus ardevoli [PDF]

, 2015
The neuroanatomy of hadrosaurid dinosaurs is well known from North America and Asia. In Europe only a few cranial remains have been recovered that include the braincase. Arenysaurus is the first European endocast for which the paleoneuroanatomy has been
Canudo, JI, Cruzado-Caballero, P, Fortuny Terricabras, Josep, LLácer, Sergio   +3 more
core   +10 more sources

Total hip arthroplasty combined with subtrochanteric shortening osteotomy for Crowe type IV hip dysplasia in dwarfism: a case report

Journal of International Medical Research, 2020
Dwarfism is a condition of extreme short stature. Total hip arthroplasty (THA) in patients with dwarfism is a very demanding procedure due to their specific joint deformity and small bone size, which increases the technical difficulty of the THA ...
Mengxuan Yao, Huijie Li
doaj   +1 more source

Reliability of Agreement between Insulin, Clonidine, and Glucagon Stimulation Tests for the Diagnosis of Growth Hormone Deficiency in Children: A Retrospective Cohort Study

Children, 2023
Growth hormone (GH) deficiency (GHD) is a rare disorder. The diagnosis of GHD requires a combination of two provocative GH tests. This study aimed to find agreement between commonly used medications to determine which combined tests have high reliability
Rana Al Balwi, Mohammad Al-Qahtani, Amani K. Alrowished, Hwazen A. Shash, Reem Alatrash, Alanoud Alhareth, Roba Aldossary, Maha Alahmari, Yara Hejazi, Alia Alammari, Sarah AlShawaf, Rawan Al Balwi, Suzan AlKhater   +12 more
doaj   +1 more source

Clinical and radiological findings of incidental Rathke's cleft cysts in children and adolescents [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2014
PurposeIn the pediatric population, Rathke's cleft cysts (RCCs) are known to be an infrequent cause of headaches, visual disturbances, and pituitary dysfunction.
Yeon Joung Oh, Hong Kyu Park, Seung Yang, Jun Ho Song, Il Tae Hwang   +4 more
doaj   +1 more source

Laron syndrome: clinic, diagnostics (а clinical case)

Mìžnarodnij Endokrinologìčnij Žurnal, 2022
The combination of normal/high levels of somatotropic hormone with low levels of insulin-like growth factor-1 is characteristic of impaired receptor sensitivity to somatotropic hormone, a rare genetically determined syndrome described by Israeli ...
P.M. Lіashuk, R.P. Lіashuk, N.I. Stankova, M.B. Kudina   +3 more
doaj   +1 more source

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
core   +1 more source

Estrone and estradiol concentrations in human ovaries, testes, and adrenals during the first two years of life [PDF]

, 1987
To determine the origin of estrogens in infant blood, we measured estrone (E1) and estradiol (E2) in the gonads of 50 girls and 64 boys who died suddenly between birth and 2 yr of age as well as in the adrenals of 18 of these infant girls and 16 of the ...
Bidlingmaier, F., Dorr, H. G., Eisenmenger, Wolfgang, Knorr, D., Strom, T. M.   +4 more
core   +1 more source

Dental Abnormalities in Pituitary Dwarfism: A Case Report and Review of the Literature

Case Reports in Dentistry, 2017
Hypopituitarism is a disorder caused by a reduced level of trophic hormones that may be consequent on different destructive processes. The clinical manifestations depend on the type of hormone involved.
Franco Ferrante, Sergio Blasi, Rolando Crippa, Francesca Angiero   +3 more
doaj   +1 more source

The Enigma behind Pituitary and Sella Turcica

Case Reports in Dentistry, 2015
The pituitary gland’s role as a functional matrix for sella turcica has not been suggested in orthodontic literature. This paper is an attempt to correlate the role of pituitary gland in the development of sella turcica.
Umarevathi Gopalakrishnan, Lodd Mahendra, Sumanth Rangarajan, Ramasamy Madasamy, Mohammad Ibrahim   +4 more
doaj   +1 more source