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3. Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions. Scirè G; Dallapiccola B; Iannetti P; Bonaiuto F; Galasso C; Mingarelli R; Boscherini B Am J Med Genet; 1994 Oct; 52(4):478-82. PubMed ID: 7747762 [TBL] [Abstract][Full Text] [Related]
4. [Transient neonatal hypocalcemia. Onset Manifestation of the 22q11.2 deletion syndrome]. Pusceddu M; Bertone A; Campra D; Pontoriero D; Guala A Minerva Pediatr; 2002 Aug; 54(4):343-5. PubMed ID: 12131871 [No Abstract] [Full Text] [Related]
5. CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects. Hou JW; Wang JK; Tsai WY; Chou CC; Wang TR J Formos Med Assoc; 1997 Jun; 96(6):419-23. PubMed ID: 9216164 [TBL] [Abstract][Full Text] [Related]
6. Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity. De Silva D; Duffty P; Booth P; Auchterlonie I; Morrison N; Dean JC Clin Dysmorphol; 1995 Oct; 4(4):294-303. PubMed ID: 8574419 [TBL] [Abstract][Full Text] [Related]
7. Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? Worthington S; Colley A; Fagan K; Dai K; Lipson AH J Med Genet; 1997 Jan; 34(1):79-82. PubMed ID: 9032655 [TBL] [Abstract][Full Text] [Related]
8. Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clinical variability of 22q11 deletion. Devriendt K; Van Hoestenberghe R; Van Hole C; Devlieger H; Gewillig M; Moerman P; Van den Berghe H; Fryns JP Clin Genet; 1997 Apr; 51(4):246-9. PubMed ID: 9184246 [TBL] [Abstract][Full Text] [Related]
9. Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2. Aricò M; Bettinelli A; Maccario R; Clementi R; Bossi G; Danesino C Am J Med Genet; 1999 Dec; 87(4):329-30. PubMed ID: 10588839 [TBL] [Abstract][Full Text] [Related]
10. Psychiatric inpatients and chromosome deletions within 22q11.2. Sugama S; Namihira T; Matsuoka R; Taira N; Eto Y; Maekawa K J Neurol Neurosurg Psychiatry; 1999 Dec; 67(6):803-6. PubMed ID: 10567504 [TBL] [Abstract][Full Text] [Related]
11. Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion. Akçakuş M; Güneş T; Kurtoğlu S; Cetin N; Ozkul Y; Narin N; Atabek ME; Uğraş R Turk J Pediatr; 2004; 46(2):191-3. PubMed ID: 15214756 [TBL] [Abstract][Full Text] [Related]
12. Williams syndrome cognitive profile also characterizes Velocardiofacial/DiGeorge syndrome. Bearden CE; Wang PP; Simon TJ Am J Med Genet; 2002 Aug; 114(6):689-92. PubMed ID: 12210289 [No Abstract] [Full Text] [Related]
13. Associated anomalies in asymmetric crying facies and 22q11 deletion. Akcakus M; Ozkul Y; Gunes T; Kurtoglu S; Cetin N; Kisaarslan AP; Dundar M Genet Couns; 2003; 14(3):325-30. PubMed ID: 14577677 [TBL] [Abstract][Full Text] [Related]
14. CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11. Sergi C; Serpi M; Müller-Navia J; Schnabel PA; Hagl S; Otto HF; Ulmer HE Pathologica; 1999 Jun; 91(3):166-72. PubMed ID: 10536461 [TBL] [Abstract][Full Text] [Related]
15. A case of chromosome 22q11 deletion syndrome diagnosed in a 32-year-old man with hypoparathyroidism. Maalouf NM; Sakhaee K; Odvina CV J Clin Endocrinol Metab; 2004 Oct; 89(10):4817-20. PubMed ID: 15472168 [TBL] [Abstract][Full Text] [Related]
16. Velocardiofacial syndrome presenting as hypocalcemia in early adolescence. Sykes KS; Bachrach LK; Siegel-Bartelt J; Ipp M; Kooh SW; Cytrynbaum C Arch Pediatr Adolesc Med; 1997 Jul; 151(7):745-7. PubMed ID: 9232055 [No Abstract] [Full Text] [Related]
17. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. Driscoll DA; Salvin J; Sellinger B; Budarf ML; McDonald-McGinn DM; Zackai EH; Emanuel BS J Med Genet; 1993 Oct; 30(10):813-7. PubMed ID: 8230155 [TBL] [Abstract][Full Text] [Related]
18. An adult case of 22q11.2 deletion syndrome diagnosed in a 36-year-old woman with hypocalcemia caused by hypoparathyroidism and Hashimoto's thyroiditis. Nakada Y; Terui K; Kageyama K; Tsushima Y; Murakami H; Soma Y; Nigawara T; Sakihara S Intern Med; 2013; 52(12):1365-8. PubMed ID: 23774548 [TBL] [Abstract][Full Text] [Related]
20. Symptomatic hypoparathyroidism based on a 22q11 deletion first diagnosed in a 43-year-old woman. van den Berge K; Diderich K; Poddighe P; Berghout A Neth J Med; 2009 Mar; 67(3):102-4. PubMed ID: 19307681 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]