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Items: 1 to 20 of 107

2.

Short stature, mental retardation, and hypoparathyroidism: a new syndrome.

Richardson RJ, Kirk JM.

Arch Dis Child. 1990 Oct;65(10):1113-7.

3.

Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.

Hershkovitz E, Parvari R, Diaz GA, Gorodischer R.

J Pediatr Endocrinol Metab. 2004 Dec;17(12):1583-90. Review.

PMID:
15645691
4.

A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

Sanjad SA, Sakati NA, Abu-Osba YK, Kaddoura R, Milner RD.

Arch Dis Child. 1991 Feb;66(2):193-6.

5.

The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

Hershkovitz E, Shalitin S, Levy J, Leiberman E, Weinshtock A, Varsano I, Gorodischer R.

Isr J Med Sci. 1995 May;31(5):293-7. Review.

PMID:
7538982
6.

A patient with hypoparathyroidism, dysmorphic features and mental retardation.

Cohen SE, Raz I, Safadi R.

Eur J Med Res. 1996 Feb 22;1(5):266-8. Review.

PMID:
9374448
7.

Anesthesia management for the child with Sanjad-Sakati syndrome.

Platis CM, Wasersprung D, Kachko L, Tsunzer I, Katz J.

Paediatr Anaesth. 2006 Nov;16(11):1189-92.

PMID:
17040310
8.

2q35qter duplication syndrome: phenotypic definition.

Grammatico P, Di Rosa C, Rinaldi R, Roccella M, Cupilari F, Sbezzi T, Del Porto G.

Genet Couns. 1997;8(4):327-34.

PMID:
9457503
9.

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 15;140(6):611-7. Review.

PMID:
16470743
10.

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.

Pediatrics. 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. Erratum in: Pediatrics. 2008 May;121(5):1081. Braley, Lisa L [corrected to Brailey, Lisa L].

PMID:
18245432
11.
12.
13.

De Barsy syndrome: a review of the phenotype.

Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G.

Clin Dysmorphol. 2008 Apr;17(2):99-107. doi: 10.1097/MCD.0b013e3282f4a964. Review.

PMID:
18388779
14.

Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.

Shaw NJ, Haigh D, Lealmann GT, Karbani G, Brocklebank JT, Dillon MJ.

Arch Dis Child. 1991 Oct;66(10):1191-4.

15.

A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

Richardson RJ, Kirk J.

Arch Dis Child. 1991 Nov;66(11):1365. No abstract available.

16.

The dentofacial features of Sanjad-Sakati syndrome: a case report.

Al-Malik MI.

Int J Paediatr Dent. 2004 Mar;14(2):136-40.

17.

Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.

Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani SR, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault AC, Cheung SW, Bacino CA.

Clin Genet. 2007 Oct;72(4):329-38.

PMID:
17850629
18.

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG.

Am J Hum Genet. 1997 Sep;61(3):642-50.

20.

Interstitial deletion of chromosome 10, del(10) (q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies.

Zenger-Hain JL, Roberson J, Van Dyke DL, Weiss L.

Am J Med Genet. 1993 Jun 1;46(4):438-40.

PMID:
7689299

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