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5. Prenatal ultrasound and MRI Diagnosis of Jeune syndrome type I (asphyxiating thoracic dystrophy) with histology and post-mortem three-dimensional CT confirmation. Tonni G; Panteghini M; Bonasoni M; Pattacini P; Ventura A Fetal Pediatr Pathol; 2013 Apr; 32(2):123-32. PubMed ID: 22594482 [TBL] [Abstract][Full Text] [Related]
6. Respiratory sleep disorders in Jeune syndrome: a case description. Congiu P; Puligheddu M; Gioi G; Marica M; Pani C; Piga S; Marrosu F; Boccone L Arch Ital Biol; 2015; 153(2-3):157-61. PubMed ID: 26742669 [TBL] [Abstract][Full Text] [Related]
7. Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome). Keogh SJ; McKee S; Smithson SF; Grier D; Steward CG BMC Pediatr; 2012 May; 12():48. PubMed ID: 22554078 [TBL] [Abstract][Full Text] [Related]
8. Case report: anesthesia in patients with asphyxiating thoracic dystrophy: Jeune syndrome. Saletti D; Grigio TR; Tonelli D; Ribeiro Júnior OD; Marini F Rev Bras Anestesiol; 2012; 62(3):424-31. PubMed ID: 22656687 [TBL] [Abstract][Full Text] [Related]
9. Sternoplasty and rib distraction in neonatal Jeune syndrome. Conroy E; Eustace N; McCormack D J Pediatr Orthop; 2010 Sep; 30(6):527-30. PubMed ID: 20733414 [TBL] [Abstract][Full Text] [Related]
10. [Familial asphyxiating thoracic dystrophy (maladie de Jeune). A contribution on the differential diagnosis of disproportionate dwarfism]. Kotte W; Kunze P; Eichhorn D Kinderarztl Prax; 1972 Feb; 40(2):83-92. PubMed ID: 4663436 [No Abstract] [Full Text] [Related]
11. DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy. Emiralioglu N; Wallmeier J; Olbrich H; Omran H; Ozcelik U Clin Respir J; 2018 Mar; 12(3):1017-1020. PubMed ID: 28257607 [TBL] [Abstract][Full Text] [Related]
12. Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case. Güvenç O; Sündüs Uygun S; Çimen D; Aslan E; Annagür A Turk Kardiyol Dern Ars; 2016 Sep; 44(6):503-6. PubMed ID: 27665332 [TBL] [Abstract][Full Text] [Related]
13. Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes. Krakow D; Salazar D; Wilcox WR; Rimoin DL; Cohn DH Eur J Hum Genet; 2000 Aug; 8(8):645-8. PubMed ID: 10951528 [TBL] [Abstract][Full Text] [Related]
14. Asphyxiating thoracic dystrophy of the newborn. Sharma S P N G Med J; 1983; 26(3-4):235-8. PubMed ID: 6595894 [TBL] [Abstract][Full Text] [Related]
15. New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy. Cossu C; Incani F; Serra ML; Coiana A; Crisponi G; Boccone L; Rosatelli MC Clin Chim Acta; 2016 Apr; 455():172-80. PubMed ID: 26874042 [TBL] [Abstract][Full Text] [Related]
16. [Asphyxiating thoracic dystrophy: review of the literature. Apropos of 2 cases]. Bouliane R; Slomic A Union Med Can; 1974 Mar; 103(3):472-7. PubMed ID: 4820877 [No Abstract] [Full Text] [Related]
17. Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). Keppler-Noreuil KM; Adam MP; Welch J; Muilenburg A; Willing MC Am J Med Genet A; 2011 May; 155A(5):1021-32. PubMed ID: 21465651 [TBL] [Abstract][Full Text] [Related]
18. "Jeune syndrome" (asphyxiating thoracic dystrophy). Report of a case, a review of the literature, and an editor's commentary. Tahernia AC; Stamps P Clin Pediatr (Phila); 1977 Oct; 16(10):903-8. PubMed ID: 891068 [No Abstract] [Full Text] [Related]
19. Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. Tüysüz B; Bariş S; Aksoy F; Madazli R; Ungür S; Sever L Am J Med Genet A; 2009 Aug; 149A(8):1727-33. PubMed ID: 19610081 [TBL] [Abstract][Full Text] [Related]
20. [Variance in the clinical picture and course of asphyxiating thoracic dysplasia (Jeune syndrome)]. Reiterer F; Müller WD; Wendler H Klin Padiatr; 1986; 198(4):340-3. PubMed ID: 3762007 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]