Results 111 to 120 of about 6,534 (202)

Molecular genetics in achondroplasia: A preliminary study

, 2001
Akondroplazi; otozomal dominant geçiş gösteren, ileri derecede boy kısalığı yapan ve tüm toplumlarda en sık rastlanılan iskelet displazisidir. Akondroplazili hastaların %90'ından fazlasında hastalığın, 4 numaralı kromozomun p kolunun 16.3 bölgesinde yer ...
Pehlivan, Sacide, Ülgenalp, Ayfer, Özkınay, Ferda, Çoğulu, Özgür, Okutman, Özlem, Çankaya, Tufan, Özcan, Ali   +6 more
core  

Case of Achondroplasia [PDF]

Proceedings of the Royal Society of Medicine, 1912
openaire   +2 more sources

UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process. [PDF]

Arch Dis Child
Candler TP, Ali K, Bewick E, Borg SA, Chinoy A, Cobourne MT, Cocca A, Freeman A, Gibbins J, Gosnell E, Harrison M, Johnson K, Latimer M, McDevitt H, Murch O, Nadar R, Offiah AC, Parks C, Skae M, Smithson SF, Tucker I, Turcu S, Webb EA, Wright M, Cheung MS.   +24 more
europepmc   +1 more source

Surgical Correction of Thoracolumbar Kyphosis in Achondroplasia: Complications, Pitfalls, and Reflections on the Pursuit of Maximal Realignment in View of Correction Leading to Functional Disability. [PDF]

J Clin Med
Walczak J, Nowosławska E, Zakrzewski K, Grabala P.   +3 more
europepmc   +1 more source

Perioperative Anesthetic Management for Bariatric Surgery in a Patient With Achondroplasia and Prior Limb-Lengthening: A Case Report. [PDF]

Cureus
Kim JW, Lee D, Kang D.
europepmc   +1 more source

Achondroplasia in a Twin [PDF]

Proceedings of the Royal Society of Medicine, 1910
openaire   +2 more sources

Cognitive phenotype and language skills in children with achondroplasia

, 2019
Although Achondroplasia (ACH) may not be considered a condition strictly related to neuropsychiatric problems, many children referred to paediatric neurologists and psychiatrists to undergo motor and linguistic diagnostic-rehab procedures. The purpose of
Cerminara, C, Siracusano, M, GALASSO, CINZIA, El Malhany, N, Pitzianti, M, Terribili, M.   +5 more
core  

Efficacy and safety of limb lengthening in achondroplasia: A systematic review and meta-analysis. [PDF]

Int Orthop
Hosny G, AbdElnaser A, Elashhab A, Saad H.   +3 more
europepmc   +1 more source

Effect of vosoritide on spine morphology in children with achondroplasia: 1-year results from a randomized phase 2 study. [PDF]

J Endocr Soc
Irving M, Savarirayan R, Hoover-Fong JE, Dee A, Mukherjee S, Rivat C, Sabir I, White KK.   +7 more
europepmc   +1 more source

Multilevel Laminectomy for Lumbar Spinal Stenosis With Low Back Pain in Achondroplasia: A Case Report. [PDF]

Am J Case Rep
Kapetanakis S, Chatzivasiliadis M, Koukos C, Tsioulas P, Siopis C, Gkantsinikoudis N.   +5 more
europepmc   +1 more source