180 related articles for article (PubMed ID: 33010201)
1. Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report.
Cavole TR; Perrone E; de Faria Soares MF; Dias da Silva MR; Maeda SS; Lazaretti-Castro M; Alvarez Perez AB
Am J Med Genet A; 2020 Dec; 182(12):3029-3034. PubMed ID: 33010201
[TBL] [Abstract][Full Text] [Related]
2. [Kenny-Caffey syndrome and its related syndromes].
Isojima T; Kitanaka S
Nihon Rinsho; 2015 Nov; 73(11):1959-64. PubMed ID: 26619675
[TBL] [Abstract][Full Text] [Related]
3. A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.
Isojima T; Doi K; Mitsui J; Oda Y; Tokuhiro E; Yasoda A; Yorifuji T; Horikawa R; Yoshimura J; Ishiura H; Morishita S; Tsuji S; Kitanaka S
J Bone Miner Res; 2014 Apr; 29(4):992-8. PubMed ID: 23996431
[TBL] [Abstract][Full Text] [Related]
4. Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan.
Ajarmeh SA; Al Tamimi EM
J Pediatr Endocrinol Metab; 2018 Apr; 31(5):581-584. PubMed ID: 29494340
[TBL] [Abstract][Full Text] [Related]
5. Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.
Müller R; Steffensen T; Krstić N; Cain MA
Am J Med Genet A; 2021 Jun; 185(6):1903-1907. PubMed ID: 33750016
[TBL] [Abstract][Full Text] [Related]
6. Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
Schigt H; Bald M; van der Eerden BCJ; Gal L; Ilenwabor BP; Konrad M; Levine MA; Li D; Mache CJ; Mackin S; Perry C; Rios FJ; Schlingmann KP; Storey B; Trapp CM; Verkerk AJMH; Zillikens MC; Touyz RM; Hoorn EJ; Hoenderop JGJ; de Baaij JHF
J Clin Endocrinol Metab; 2023 Aug; 108(9):e754-e768. PubMed ID: 36916904
[TBL] [Abstract][Full Text] [Related]
7. Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).
Chen X; Zou C
Mol Genet Genomic Med; 2024 Apr; 12(4):e2433. PubMed ID: 38591167
[TBL] [Abstract][Full Text] [Related]
8. Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.
Diaz GA; Gelb BD; Ali F; Sakati N; Sanjad S; Meyer BF; Kambouris M
Am J Med Genet; 1999 Jul; 85(1):48-52. PubMed ID: 10377012
[TBL] [Abstract][Full Text] [Related]
9. Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His.
Nikkel SM; Ahmed A; Smith A; Marcadier J; Bulman DE; Boycott KM
Clin Genet; 2014 Oct; 86(4):394-5. PubMed ID: 24635597
[No Abstract] [Full Text] [Related]
10. A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review.
Ryabets-Lienhard A; Issaranggoon Na Ayuthaya S; Graham JM; Pitukcheewanont P
Am J Med Genet A; 2018 Aug; 176(8):1768-1772. PubMed ID: 30055029
[TBL] [Abstract][Full Text] [Related]
11. Status epilepticus in a child with Sanjad Sakati syndrome.
Prasad R; Kumari C; Mishra OP; Singh UK
BMJ Case Rep; 2013 Feb; 2013():. PubMed ID: 23378547
[TBL] [Abstract][Full Text] [Related]
12. The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin.
Ratbi I; Lyahyai J; Kabiri M; Banouar M; Zerkaoui M; Barkat A; Sefiania A
Ann Saudi Med; 2015; 35(2):170-2. PubMed ID: 26336027
[TBL] [Abstract][Full Text] [Related]
13. FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Unger S; Górna MW; Le Béchec A; Do Vale-Pereira S; Bedeschi MF; Geiberger S; Grigelioniene G; Horemuzova E; Lalatta F; Lausch E; Magnani C; Nampoothiri S; Nishimura G; Petrella D; Rojas-Ringeling F; Utsunomiya A; Zabel B; Pradervand S; Harshman K; Campos-Xavier B; Bonafé L; Superti-Furga G; Stevenson B; Superti-Furga A
Am J Hum Genet; 2013 Jun; 92(6):990-5. PubMed ID: 23684011
[TBL] [Abstract][Full Text] [Related]
14. Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.
Courtens W; Wuyts W; Poot M; Szuhai K; Wauters J; Reyniers E; Eleveld M; Diaz G; Nöthen MM; Parvari R
Am J Med Genet A; 2006 Mar; 140(6):611-7. PubMed ID: 16470743
[TBL] [Abstract][Full Text] [Related]
15. Sanjad-Sakati syndrome in a Tunisian child.
Kerkeni E; Sakka R; Sfar S; Bouaziz S; Ghedira N; Ben Ameur K; Ben Hmida H; Chioukh FZ; Ghédira ES; Gribaa M; Monastiri K
Arch Pediatr; 2015 Sep; 22(9):951-5. PubMed ID: 26231322
[TBL] [Abstract][Full Text] [Related]
16. Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome.
Aminzadeh M; Galehdari H; Shariati G; Malekpour N; Ghandil P
J Pediatr (Rio J); 2020; 96(1):60-65. PubMed ID: 30080992
[TBL] [Abstract][Full Text] [Related]
17. Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.
Touati A; Nouri S; Halleb Y; Kmiha S; Mathlouthi J; Tej A; Mahdhaoui N; Ben Ahmed A; Saad A; Bensignor C; H'mida Ben Brahim D
Arch Pediatr; 2019 Feb; 26(2):102-107. PubMed ID: 30638765
[TBL] [Abstract][Full Text] [Related]
18. Sanjad Sakati syndrome: a case series from Jordan.
Albaramki J; Akl K; Al-Muhtaseb A; Al-Shboul M; Mahmoud T; El-Khateeb M; Hamamy H
East Mediterr Health J; 2012 May; 18(5):527-31. PubMed ID: 22764442
[TBL] [Abstract][Full Text] [Related]
19. Case report: Late middle-aged features of
Ohmachi Y; Urai S; Bando H; Yokoi J; Yamamoto M; Kanie K; Motomura Y; Tsujimoto Y; Sasaki Y; Oi Y; Yamamoto N; Suzuki M; Shichi H; Iguchi G; Uehara N; Fukuoka H; Ogawa W
Front Endocrinol (Lausanne); 2022; 13():1073173. PubMed ID: 36686468
[TBL] [Abstract][Full Text] [Related]
20. Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature.
Cheng SSW; Chan PKJ; Luk HM; Mok MT; Lo IFM
Am J Med Genet A; 2021 Feb; 185(2):636-646. PubMed ID: 33263187
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
