313 related articles for article (PubMed ID: 17321227)
1. 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; 50(2):144-8. PubMed ID: 17321227
[TBL] [Abstract][Full Text] [Related]
2. Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency.
Martínez-Frías ML; Frías JL; Galán E; Domingo R; Paisán L; Blanco M
Am J Med Genet; 1992 Oct; 44(3):352-5. PubMed ID: 1488984
[TBL] [Abstract][Full Text] [Related]
3. Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia.
Annerén G; Meurling S; Lilja H; Wallander J; von Döbeln U
Am J Med Genet; 1998 Jul; 78(3):306-7. PubMed ID: 9677074
[No Abstract] [Full Text] [Related]
4. 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; 53(1):25-8. PubMed ID: 19887127
[TBL] [Abstract][Full Text] [Related]
5. Biliary atresia splenic malformation syndrome--is it a result of embryonically midline rotational defects? A case report.
Deveci MS; Deveci G
J Pediatr Surg; 2000 Sep; 35(9):1377-80. PubMed ID: 10999706
[TBL] [Abstract][Full Text] [Related]
6. Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic pancreas, and hypospadias: further evidence of a new distinct syndrome.
Gentile M; Fiorente P
Am J Med Genet; 1999 Nov; 87(1):82-3. PubMed ID: 10528254
[No Abstract] [Full Text] [Related]
7. Craniomicromelic syndrome: a newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation.
Barr M; Heidelberger KP; Comstock CH
Am J Med Genet; 1995 Sep; 58(4):348-52. PubMed ID: 8533844
[TBL] [Abstract][Full Text] [Related]
8. Familial biliary atresia.
Danesino C; Spadoni E; Buzzi A
Am J Med Genet; 1999 Jul; 85(2):195. PubMed ID: 10406679
[No Abstract] [Full Text] [Related]
9. 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. PubMed ID: 15592663
[TBL] [Abstract][Full Text] [Related]
10. Extrahepatic biliary atresia with laterality sequence anomalies.
Stoll C; Morali A; Leheup B; Lucron H
Genet Couns; 2001; 12(2):157-61. PubMed ID: 11491311
[TBL] [Abstract][Full Text] [Related]
11. Guadalajara camptodactyly syndrome. A distinct probably autosomal recessive disorder.
Cantú JM; Rivera H; Nazará Z; Rojas Q; Hernández A; García-Cruz D
Clin Genet; 1980 Sep; 18(3):153-9. PubMed ID: 7192193
[TBL] [Abstract][Full Text] [Related]
12. Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.
Concepcion JP; Reh CS; Daniels M; Liu X; Paz VP; Ye H; Highland HM; Hanis CL; Greeley SA
Pediatr Diabetes; 2014 Feb; 15(1):67-72. PubMed ID: 23914949
[TBL] [Abstract][Full Text] [Related]
13. [Intestinal atresia and bile duct atresia in a new born infant].
de Mingo L; Cortés MJ; Morato P; Rollán V
Cir Pediatr; 2000 Oct; 13(4):172-3. PubMed ID: 12601957
[TBL] [Abstract][Full Text] [Related]
14. Multiple gastrointestinal atresias with imperforate anus: pathology and pathogenesis.
Shen-Schwarz S; Fitko R
Am J Med Genet; 1990 Aug; 36(4):451-5. PubMed ID: 2202215
[TBL] [Abstract][Full Text] [Related]
15. 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; 146A(13):1713-7. PubMed ID: 18512226
[TBL] [Abstract][Full Text] [Related]
16. Polysplenia syndrome and splenic hypoplasia associated with extrahepatic biliary atresia.
Maksem JA
Arch Pathol Lab Med; 1980 Apr; 104(4):212-4. PubMed ID: 6892684
[TBL] [Abstract][Full Text] [Related]
17. [A fatal autosomal recessive syndrome with multiple congenital contractures].
Herva R; Leisti J; Kirkinen P; Seppänen U; Martikainen J
Duodecim; 1985; 101(8):756-62. PubMed ID: 4039655
[No Abstract] [Full Text] [Related]
18. Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome?
Cohen J; Schanen NC
Genet Couns; 2000; 11(2):153-6. PubMed ID: 10893666
[TBL] [Abstract][Full Text] [Related]
19. Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family.
Moreno LA; Gottrand F; Turck D; Manouvrier-Hanu S; Mazingue F; Morisot C; Le Deist F; Ricour C; Nihoul-Feketé C; Debeugny P
Am J Med Genet; 1990 Sep; 37(1):143-6. PubMed ID: 2240032
[TBL] [Abstract][Full Text] [Related]
20. Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome.
Mori PG; Priolo M; Lerone M; Pasino M; Caroli F; Cusano R; Seri M; Silengo MC
Am J Med Genet; 1999 Nov; 87(1):36-9. PubMed ID: 10528244
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]