Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 211

1.

Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome.

Reardon W, Temple IK.

Am J Med Genet A. 2008 May 15;146A(10):1296-8. doi: 10.1002/ajmg.a.32250.

PMID:
18384141
2.

Clinical features and respiratory complications in Myhre syndrome.

McGowan R, Gulati R, McHenry P, Cooke A, Butler S, Keng WT, Murday V, Whiteford M, Dikkers FG, Sikkema-Raddatz B, van Essen T, Tolmie J.

Eur J Med Genet. 2011 Nov-Dec;54(6):e553-9. doi: 10.1016/j.ejmg.2011.07.001. Epub 2011 Jul 21.

PMID:
21816239
3.

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

Bárcena C, Quesada V, De Sandre-Giovannoli A, Puente DA, Fernández-Toral J, Sigaudy S, Baban A, Lévy N, Velasco G, López-Otín C.

BMC Med Genet. 2014 May 2;15:51. doi: 10.1186/1471-2350-15-51.

4.

[The syndrome of idiopathic hypercalcemia in children: an enigma].

Brazeau L, Tsakiris A, Gervais MH.

Union Med Can. 1972 Jun;101(6):1150-4. French. No abstract available.

PMID:
5036372
5.

The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.

Ko JM, Shin CH, Yang SW, Seong MW, Park SS, Song J.

J Korean Med Sci. 2012 Aug;27(8):961-4. doi: 10.3346/jkms.2012.27.8.961. Epub 2012 Jul 25.

6.

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.

Prontera P, Micale L, Verrotti A, Napolioni V, Stangoni G, Merla G.

Hum Mutat. 2015 Nov;36(11):1043-7. doi: 10.1002/humu.22853. Epub 2015 Aug 24.

PMID:
26252249
8.

Long-term follow-up of patients with idiopathic infantile hypercalcaemia.

Huang J, Coman D, McTaggart SJ, Burke JR.

Pediatr Nephrol. 2006 Nov;21(11):1676-80. Epub 2006 Aug 24.

PMID:
16932902
9.

[Efficient diagnostic procedures in disorders of calcium and phosphate metabolism in childhood].

Kruse K.

Klin Padiatr. 1983 Mar;195(2):80-5. Review. German.

PMID:
6343713
10.

Short syndrome-an expanding phenotype.

Singh A, Arora R, Singh P, Kapoor S.

Indian Pediatr. 2013 Apr;50(4):414-6.

11.

Hypercalciuria and nephrocalcinosis in children.

Moxey-Mims MM, Stapleton FB.

Curr Opin Pediatr. 1993 Apr;5(2):186-90. Review.

PMID:
8374638
12.

Neonatal Bartter syndrome--use of indomethacin in the newborn period and prevention of growth failure.

Mackie FE, Hodson EM, Roy LP, Knight JF.

Pediatr Nephrol. 1996 Dec;10(6):756-8.

PMID:
8971899
13.

Hypercalcaemia in association with trisomy 21 (Down's syndrome).

Ramage IJ, Durkan A, Walker K, Beattie TJ.

J Clin Pathol. 2002 Jul;55(7):543-4.

14.

A toddler with Down syndrome, hypercalcaemia, hypercalciuria, medullary nephrocalcinosis and renal failure.

Proesmans W, De Cock P, Eyskens B.

Pediatr Nephrol. 1995 Feb;9(1):112-4; discussion 115-6. No abstract available.

PMID:
7742209
15.

Renal hypomagnesemia, hypercalciuria and nephrocalcinosis in a middle-aged man.

Enríquez R, Sirvent AE, Amorós F, Martínez M, Cabezuelo JB, Reyes A.

Scand J Urol Nephrol. 2003;37(1):93-5.

PMID:
12745755
16.

Rabson-Mendenhall syndrome: medullary sponge kidney, a new component.

Harris AM, Hall B, Kriss VM, Fowlkes JL, Kiessling SG.

Pediatr Nephrol. 2007 Dec;22(12):2141-4. Epub 2007 Sep 12.

PMID:
17849153
17.

Nephrocalcinosis in siblings--familial hypomagnesemia, hypercalciuria with nephrocalcinosis (FHHNC syndrome).

Prabahar MR, Manorajan R, Fernando ME, Venkatraman R, Balaraman V, Jayakumar M.

J Assoc Physicians India. 2006 Jun;54:497-500.

PMID:
16909703
18.

Hypercalcemia and nephrocalcinosis in patients with congenital lactase deficiency.

Saarela T, Similä S, Koivisto M.

J Pediatr. 1995 Dec;127(6):920-3.

PMID:
8523189
19.

[Clinical aspects, pathophysiology and diagnosis of artificial metabolic diseases].

Lüscher T, Kuhlmann U, Turina J, Illig R, Vetter W.

Schweiz Rundsch Med Prax. 1984 Oct 9;73(41):1253-60. German. No abstract available.

PMID:
6494692
20.

Consider sarcoidosis in patients with nephrocalcinosis, even if the chest roentgenogram is normal.

Freitag J, Göbel U, Passfall J, Kettritz U, Schneider W, Luft FC.

Nephrol Dial Transplant. 1997 Oct;12(10):2161-5. No abstract available.

Items per page

Supplemental Content

Write to the Help Desk