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Items: 1 to 20 of 98

1.

IMAGe syndrome: Case report with a previously unreported feature and review of published literature.

Balasubramanian M, Sprigg A, Johnson DS.

Am J Med Genet A. 2010 Dec;152A(12):3138-42. doi: 10.1002/ajmg.a.33716. Review.

PMID:
21108398
2.

IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development.

Pedreira CC, Savarirayan R, Zacharin MR.

J Pediatr. 2004 Feb;144(2):274-7.

PMID:
14760276
3.

IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.

Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabe ER.

J Clin Endocrinol Metab. 1999 Dec;84(12):4335-40. Review.

PMID:
10599684
4.

[A peculiar form of neonatal adrenal insufficiency: the IMAGe association. Two new cases].

Ferey S, Merzoug V, Linglart A, Chaussain JL, Kalifa G.

J Radiol. 2003 Mar;84(3):323-5. French.

5.

Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance.

Bergadá I, Del Rey G, Lapunzina P, Bergadá C, Fellous M, Copelli S.

J Clin Endocrinol Metab. 2005 Jun;90(6):3186-90. Epub 2005 Mar 15. Review.

PMID:
15769992
6.

IMAGe association: additional clinical features and evidence for recessive autosomal inheritance.

Lienhardt A, Mas JC, Kalifa G, Chaussain JL, Tauber M.

Horm Res. 2002;57 Suppl 2:71-8.

PMID:
12065932
8.

Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.

Bergmann C, Spranger S, Javaher P, Ptok M.

Oral Maxillofac Surg. 2011 Jun;15(2):103-6. doi: 10.1007/s10006-009-0202-4. Review.

PMID:
20182757
9.

IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene.

Hutz JE, Krause AS, Achermann JC, Vilain E, Tauber M, Lecointre C, McCabe ER, Hammer GD, Keegan CE.

Mol Genet Metab. 2006 May;88(1):66-70. Epub 2006 Feb 28.

PMID:
16504561
10.

Bone dysplasia, midface hypoplasia, and deafness: three new patients and review of the literature.

Kääriäinen H, Barrow M, Hennekam R.

Am J Med Genet. 1993 Apr 15;46(2):223-7. Review.

PMID:
8484414
12.

Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?

Özsu E, Yeşiltepe Mutlu RG, Işık O, Çizmecioğlu FM, Hatun Ş.

J Clin Res Pediatr Endocrinol. 2014 Dec;6(4):266-8. doi: 10.4274/Jcrpe.1355.

13.

Walker-Warburg syndrome with cleft lip and cleft palate in two sibs.

Burton BK, Dillard RG, Weaver RG.

Am J Med Genet. 1987 Jul;27(3):537-41.

PMID:
3631127
14.

Oto-Palato-Digital syndrome with severe X-ray changes in two half brothers.

Kozlowski K, Turner G, Scougall J, Harrington J.

Pediatr Radiol. 1977 Sep 1;6(2):97-102.

PMID:
896356
15.

A case of a Korean newborn with IMAGe association presenting with hyperpigmented skin at birth.

Ko JM, Lee JH, Kim GH, Kim AR, Yoo HW.

Eur J Pediatr. 2007 Aug;166(8):879-80. Epub 2006 Nov 22. No abstract available.

PMID:
17120039
16.

Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review.

Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R.

Am J Med Genet A. 2006 Aug 15;140(16):1778-84.

PMID:
16835919
17.

Variable expression in otopalatodigital syndrome; cleft palate in female.

Salinas CF, Jorgenson RJ, Lorenzo RL.

Birth Defects Orig Artic Ser. 1979;15(5B):329-45. No abstract available.

PMID:
526587
19.

Anesthetic and dental management of a child with IMAGe syndrome.

Lindemeyer RG, Rashewsky SE, Louie PJ, Schleelein L.

Anesth Prog. 2014 Winter;61(4):165-8. doi: 10.2344/0003-3006-61.4.165.

20.

Radiological evolution in IMAGe association: a case report.

Amano N, Naoaki H, Ishii T, Narumi S, Hachiya R, Nishimura G, Hasegawa T.

Am J Med Genet A. 2008 Aug 15;146A(16):2130-3. doi: 10.1002/ajmg.a.32425.

PMID:
18627061

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