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Items: 1 to 20 of 140

1.

Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.

Martinovici D, Ransy V, Vanden Eijnden S, Ridremont C, Pardou A, Cassart M, Avni F, Donner C, Lingier P, Mathieu A, Gulbis B, De Brouckère V, Cnop M, Abramowicz M, Désir J.

Eur J Med Genet. 2010 Jan-Feb;53(1):25-8. doi: 10.1016/j.ejmg.2009.10.004. Epub 2009 Nov 1.

PMID:
19887127
2.

A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.

Chappell L, Gorman S, Campbell F, Ellard S, Rice G, Dobbie A, Crow Y.

Am J Med Genet A. 2008 Jul 1;146A(13):1713-7. doi: 10.1002/ajmg.a.32304. Review.

PMID:
18512226
3.

Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martínez-Frías syndrome.

Galán-Gómez E, Sánchez EB, Arias-Castro S, Cardesa-García JJ.

Eur J Med Genet. 2007 Mar-Apr;50(2):144-8. Epub 2007 Jan 20.

PMID:
17321227
4.

Clinical and genetic complexity of Mitchell-Riley/Martinez-Frias syndrome.

Cruz L, Schnur RE, Post EM, Bodagala H, Ahmed R, Smith C, Lulis LB, Stahl GE, Kushnir A.

J Perinatol. 2014 Dec;34(12):948-50. doi: 10.1038/jp.2014.162.

PMID:
25421130
5.

Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies.

Verloes A, Lombet J, Lambert Y, Hubert AF, Deprez M, Fridman V, Gosseye S, Rigo J, Sokal E.

Am J Med Genet. 1997 Feb 11;68(4):391-5.

PMID:
9021008
6.

Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.

Mitchell J, Punthakee Z, Lo B, Bernard C, Chong K, Newman C, Cartier L, Desilets V, Cutz E, Hansen IL, Riley P, Polychronakos C.

Diabetologia. 2004 Dec;47(12):2160-7. Epub 2004 Dec 8.

PMID:
15592663
7.

Hemochromatosis--neonatal and young subjects.

Cox TM, Halsall DJ.

Blood Cells Mol Dis. 2002 Nov-Dec;29(3):411-7. Review.

PMID:
12547231
8.

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.

Khan N, Dandan W, Al Hassani N, Hadi S.

J Clin Res Pediatr Endocrinol. 2016 Jun 5;8(2):246-9. doi: 10.4274/jcrpe.2387. Epub 2015 Jan 18.

9.

Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism.

Kelly AL, Lunt PW, Rodrigues F, Berry PJ, Flynn DM, McKiernan PJ, Kelly DA, Mieli-Vergani G, Cox TM.

J Med Genet. 2001 Sep;38(9):599-610.

10.

Pathology teach and tell: neonatal hemochromatosis with massive hepatic necrosis.

Goyal R, Pattari SK, Kakkar N, Radotra BD, Narang A.

Fetal Pediatr Pathol. 2004 Sep-Dec;23(5-6):345-50.

PMID:
16137172
11.

[Neonatal hemochromatosis. Report of 3 autopsy cases].

Rodríguez Velasco A, García GR, Tejeda Vega S, Sjordia Reyes GA, Ferman Cano F, Cantú Cuevas MA.

Rev Invest Clin. 1999 Mar-Apr;51(2):81-7. Spanish.

PMID:
10410586
12.

Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21--a case report.

Neil E, Cortez J, Joshi A, Bawle EV, Poulik J, Zilberman M, El-Baba MF, Sood BG.

Ital J Pediatr. 2010 May 18;36:38. doi: 10.1186/1824-7288-36-38.

13.

Neonatal hemochromatosis: a case report.

Pearson L, Bissinger R, Romero KR.

Adv Neonatal Care. 2009 Apr;9(2):72-6. doi: 10.1097/ANC.0b013e31819ac020.

PMID:
19363327
14.

Liver ferritin subunit ratios in neonatal hemochromatosis.

Hagar W, Vichinsky EP, Theil EC.

Pediatr Hematol Oncol. 2003 Apr-May;20(3):229-35.

PMID:
12637219
15.

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

Boonen SE, Pörksen S, Mackay DJ, Oestergaard E, Olsen B, Brondum-Nielsen K, Temple IK, Hahnemann JM.

Eur J Hum Genet. 2008 Apr;16(4):453-61. doi: 10.1038/sj.ejhg.5201993. Epub 2008 Jan 16.

16.

Hepatic failure with neonatal tissue siderosis of hemochromatotic type in an infant presenting with meconium ileus. Case report and differential diagnosis of the perinatal iron storage disorders.

Sergi C, Himbert U, Weinhardt F, Heilmann W, Meyer P, Beedgen B, Zilow E, Hofmann WJ, Linderkamp O, Otto HF.

Pathol Res Pract. 2001;197(10):699-709; discussion 711-3.

PMID:
11700892
17.

A case report of neonatal diabetes due to neonatal hemochromatosis.

Cetinkaya S, Kunak B, Kara C, Demirçeken F, Yarali N, Polat E, Aycan Z.

J Pediatr Endocrinol Metab. 2010 May;23(5):521-4.

PMID:
20662354
18.

Hereditary multiple intestinal atresia.

Dallaire L, Perreault G.

Birth Defects Orig Artic Ser. 1974;10(4):259-64.

PMID:
4470900
19.

Juvenile hemochromatosis HJV-related revealed by cardiogenic shock.

Filali M, Le Jeunne C, Durand E, Grinda JM, Roetto A, Daraio F, Bruneval P, Jeunemaitre X, Gimenez-Roqueplo AP.

Blood Cells Mol Dis. 2004 Sep-Oct;33(2):120-4.

PMID:
15315789
20.

Neonatal hemochromatosis: failure of deferoxamine therapy.

Jonas MM, Kaweblum YA, Fojaco R.

J Pediatr Gastroenterol Nutr. 1987 Nov-Dec;6(6):984-8.

PMID:
3681586

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