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Quoted phrase not found in phrase index: "Multiple epiphyseal dysplasia, Al-Gazali type"
Page 1
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Leoni C, Tedesco M, Radio FC, Chillemi G, Leone A, Bruselles A, Ciolfi A, Stellacci E, Pantaleoni F, Butera G, Rigante D, Onesimo R, Tartaglia M, Zampino G. Leoni C, et al. Am J Med Genet A. 2021 Oct;185(10):3153-3160. doi: 10.1002/ajmg.a.62399. Epub 2021 Jun 23. Am J Med Genet A. 2021. PMID: 34159694
Biallelic mutations in B3GALT6, coding for a galactosyltransferase involved in the synthesis of glycosaminoglycans (GAGs), have been associated with various clinical conditions, causing spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1 or SEMDJL Bei …
Biallelic mutations in B3GALT6, coding for a galactosyltransferase involved in the synthesis of glycosaminoglycans (GAGs), have been associa …
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.
Ranza E, Huber C, Levin N, Baujat G, Bole-Feysot C, Nitschke P, Masson C, Alanay Y, Al-Gazali L, Bitoun P, Boute O, Campeau P, Coubes C, McEntagart M, Elcioglu N, Faivre L, Gezdirici A, Johnson D, Mihci E, Nur BG, Perrin L, Quelin C, Terhal P, Tuysuz B, Cormier-Daire V. Ranza E, et al. Clin Genet. 2017 Jun;91(6):868-880. doi: 10.1111/cge.12885. Epub 2017 Feb 23. Clin Genet. 2017. PMID: 28229453
The group of chondrodysplasia with multiple dislocations includes several entities, characterized by short stature, dislocation of large joints, hand and/or vertebral anomalies. Other features, such as epiphyseal or metaphyseal changes, cleft palate, intellectual di …
The group of chondrodysplasia with multiple dislocations includes several entities, characterized by short stature, dislocation of la …
Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population.
Al-Gazali LI, Bakir M, Hamid Z, Varady E, Varghes M, Haas D, Bener A, Padmanabhan R, Abdulrrazzaq YM, Dawadu A. Al-Gazali LI, et al. Birth Defects Res A Clin Mol Teratol. 2003 Feb;67(2):125-32. doi: 10.1002/bdra.10009. Birth Defects Res A Clin Mol Teratol. 2003. PMID: 12769508
RESULTS: Among the 38,048 births during the study period, 36 (9.46/10,000 births) had some type of skeletal dysplasia. Eighteen cases were attributed to autosomal recessive genes (4.7/10,000 births), 10 were due to apparent new dominant mutations (2.62/10,000), five …
RESULTS: Among the 38,048 births during the study period, 36 (9.46/10,000 births) had some type of skeletal dysplasia. Eightee …
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.
Al-Kindi A, Kizhakkedath P, Xu H, John A, Sayegh AA, Ganesh A, Al-Awadi M, Al-Anbouri L, Al-Gazali L, Leitinger B, Ali BR. Al-Kindi A, et al. BMC Med Genet. 2014 Apr 11;15:42. doi: 10.1186/1471-2350-15-42. BMC Med Genet. 2014. PMID: 24725993 Free PMC article.
BACKGROUND: The rare autosomal genetic disorder, Spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL), is reported to be caused by missense or splice site mutations in the human discoidin domain receptor 2 (DDR2) gene. ...
BACKGROUND: The rare autosomal genetic disorder, Spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcificatio …
Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type.
al-Gazali LI, Bakalinova D, Sztriha L. al-Gazali LI, et al. Clin Dysmorphol. 1996 Jul;5(3):197-206. Clin Dysmorphol. 1996. PMID: 8818447
We report two sibs with typical clinical and radiological features of spondylo-meta-epiphyseal dysplasia, short limb abnormal calcification type. In both, the degree of calcification is more extensive than in the previously reported cases and involved all the …
We report two sibs with typical clinical and radiological features of spondylo-meta-epiphyseal dysplasia, short limb abnormal …
Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.
al-Gazali LI, Sztriha L, Dawodu A, Varady E, Bakir M, Khdir A, Johansen J. al-Gazali LI, et al. J Med Genet. 1999 Jun;36(6):461-6. J Med Genet. 1999. PMID: 10874634 Free PMC article.
We report a complex consanguineous family of Baluchi origin in whom short rib-polydactyly type III and congenital infection-like syndrome are segregating. ...CNS malformations have been described in SRPS types II and IV but not type III. This report further highligh …
We report a complex consanguineous family of Baluchi origin in whom short rib-polydactyly type III and congenital infection-like synd …