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Quoted phrase not found in phrase index: "Short stature, Brussels type"
Page 1
Adult growth hormone deficiency in CEE region: Heterogeneity of the patient pathway.
Shimon I, Badiu C, Bossowski A, Doknic M, Dzivite-Krisane I, Hána V, Kollerova J, Natchev E, Pfeifer M, Szũcs N, Hey-Hadavi J, Gomez R. Shimon I, et al. Growth Horm IGF Res. 2019 Jun-Aug;46-47:44-49. doi: 10.1016/j.ghir.2019.06.001. Epub 2019 Jun 7. Growth Horm IGF Res. 2019. PMID: 31234055 Free article. Review.
At the meeting, the panel of experts discussed the findings and thereby elucidated similarities and differences among CEE countries; these were compared with international guideline-recommended practices for AGHD. RESULTS: All CEE countries involved reported having some type …
At the meeting, the panel of experts discussed the findings and thereby elucidated similarities and differences among CEE countries; these w …
Increasing knowledge in IGF1R defects: lessons from 35 new patients.
Giabicani E, Willems M, Steunou V, Chantot-Bastaraud S, Thibaud N, Abi Habib W, Azzi S, Lam B, Bérard L, Bony-Trifunovic H, Brachet C, Brischoux-Boucher E, Caldagues E, Coutant R, Cuvelier ML, Gelwane G, Guemas I, Houang M, Isidor B, Jeandel C, Lespinasse J, Naud-Saudreau C, Jesuran-Perelroizen M, Perrin L, Piard J, Sechter C, Souchon PF, Storey C, Thomas D, Le Bouc Y, Rossignol S, Netchine I, Brioude F. Giabicani E, et al. J Med Genet. 2020 Mar;57(3):160-168. doi: 10.1136/jmedgenet-2019-106328. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586944 Free article.
BACKGROUND: The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. ...The main clinical characteristics of these patients were being born small for gestational age (90.9%), short …
BACKGROUND: The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects …
Antenatal diagnosis of short-limb dwarfism: sonographic approach.
Avni EF, Rypens F, Zappa M, Donner C, Vanregemorter N, Cohen E. Avni EF, et al. Pediatr Radiol. 1996;26(3):171-8. doi: 10.1007/BF01405292. Pediatr Radiol. 1996. PMID: 8599003
A short femur may correspond to dwarfism of late development, a growth-retarded foetus or constitutional shortness. Various ratios, especially that of the femur/foot, are helpful in differentiating between them. In case of previous family history, a short or …
A short femur may correspond to dwarfism of late development, a growth-retarded foetus or constitutional shortness. Various ra …
Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).
Sabir AH, Singhal J, Man J, Mensah NE, Ahn JW, Cheung MS, Irving M. Sabir AH, et al. Clin Dysmorphol. 2021 Jul 1;30(3):154-158. doi: 10.1097/MCD.0000000000000369. Clin Dysmorphol. 2021. PMID: 33605604
We report a further case of spondylometaphyseal dysplasia - corner fracture type due to the fibronectin-1 gene (SMD-FN1) in a child originally thought to have metaphyseal chondrodysplasia-Brussels type (MCD Brussels). ...Findings from the 100 000 Genom …
We report a further case of spondylometaphyseal dysplasia - corner fracture type due to the fibronectin-1 gene (SMD-FN1) in a child o …
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study; Smith J, Clayton-Smith J. Gannon T, et al. Eur J Hum Genet. 2015 Sep;23(9):1165-70. doi: 10.1038/ejhg.2014.248. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424711 Free PMC article.
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). ...
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis menta …
Sporadic case of trichorhinophalangeal syndrome type III in a European patient.
Vilain C, Sznajer Y, Rypens F, Désir D, Abramowicz MJ. Vilain C, et al. Am J Med Genet. 1999 Aug 27;85(5):495-7. Am J Med Genet. 1999. PMID: 10405449
Trichorhinophalangeal syndrome type III (TRP III) shares common traits with TRP I and II, including sparse hair, a "pear-shaped" nose, osteodysplasia with cone-shaped epiphyses, and autosomal dominant inheritance, but is distinguished by the presence of severe brachydactyl …
Trichorhinophalangeal syndrome type III (TRP III) shares common traits with TRP I and II, including sparse hair, a "pear-shaped" nose …
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C. Abramowicz MJ, et al. J Clin Invest. 1997 Jun 15;99(12):3018-24. doi: 10.1172/JCI119497. J Clin Invest. 1997. PMID: 9185526 Free PMC article.
Functional analysis in transfected COS-7 cells showed that it resulted in extremely low expression at the cell surface as compared with the wild-type receptor, in spite of an apparently normal intracellular synthesis. ...
Functional analysis in transfected COS-7 cells showed that it resulted in extremely low expression at the cell surface as compared with the …