| 1 |
Is Asphyxiating Thoracic Dystrophy (Jeune's Syndrome) Deadly and Should We Insist on Treating It? Reconstructive Surgery "On Demand". ( 28825014
)
|
Drebov RS...Iliev A
|
2017 |
| 2 |
New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy. ( 26874042
)
|
Cossu C...Rosatelli MC
|
2016 |
| 3 |
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. ( 27021811
)
|
Schmidts M...Witman GB
|
2016 |
| 4 |
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. ( 25361962
)
|
Shaheen R...Alkuraya FS
|
2015 |
| 5 |
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. ( 26044572
)
|
Schmidts M...Witman GB
|
2015 |
| 6 |
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. ( 24360808
)
|
Tuz K...Ferland RJ
|
2014 |
| 7 |
One-stage sequential bilateral thoracic expansion for asphyxiating thoracic dystrophy (Jeune syndrome). ( 24599166
)
|
Muthialu N...Elliott MJ
|
2014 |
| 8 |
Prenatal ultrasound and MRI Diagnosis of Jeune syndrome type I (asphyxiating thoracic dystrophy) with histology and post-mortem three-dimensional CT confirmation. ( 22594482
)
|
Tonni G...Ventura A
|
2013 |
| 9 |
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome. ( 23315050
)
|
Schaballie H...Meyts I
|
2013 |
| 10 |
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. ( 23456818
)
|
Schmidts M...Mitchison HM
|
2013 |
| 11 |
Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy. ( 23985472
)
|
Poyner SE...Bradshaw WT
|
2013 |
| 12 |
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. ( 24183451
)
|
Schmidts M...Mitchison HM
|
2013 |
| 13 |
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. ( 23418020
)
|
Schmidts M...Bergmann C
|
2013 |
| 14 |
Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome). ( 22554078
)
|
Keogh SJ...Steward CG
|
2012 |
| 15 |
Case report: anesthesia in patients with asphyxiating thoracic dystrophy: Jeune syndrome. ( 22656687
)
|
Saletti D...Marini F
|
2012 |
| 16 |
Lateral thoracic expansion in a preterm baby with asphyxiating thoracic dystrophy. ( 21243577
)
|
Andrade CF...Felicetti JC
|
2011 |
| 17 |
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). ( 21465651
)
|
Keppler-Noreuil KM...Willing MC
|
2011 |
| 18 |
The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy. ( 20207966
)
|
Hudak LM...Perkins BD
|
2010 |
| 19 |
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. ( 20503315
)
|
Lehman AM...Trnka P
|
2010 |
| 20 |
The Nuss technique for Jeune asphyxiating thoracic dystrophy repair in siblings. ( 20606585
)
|
Kikuchi N...Hayasaka K
|
2010 |
| 21 |
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. ( 19442771
)
|
Dagoneau N...Cormier-Daire V
|
2009 |
| 22 |
Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. ( 19610081
)
|
T?ys?z B...Sever L
|
2009 |
| 23 |
Jeune's syndrome (asphyxiating thoracic dystrophy): congenital and acquired. ( 18582822
)
|
Phillips JD...van Aalst JA
|
2008 |
| 24 |
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. ( 17468754
)
|
Beales PL...Scambler PJ
|
2007 |
| 25 |
[Jeune'disease (asphyxiating thoracic dystrophy) and respiratory failure: importance of early respiratory management with periodic hyperinsufflation]. ( 18447062
)
|
Do Ngoc Thanh C...Ioos C
|
2007 |
| 26 |
Asphyxiating thoracic dystrophy with facial dysmorphism. ( 17202643
)
|
Sankar VH...Phadke SR
|
2006 |
| 27 |
The prenatal detection of Jeune syndrome (asphyxiating thoracic dystrophy). Case report. ( 19292094
)
|
Socolov R...Covali R
|
2006 |
| 28 |
Further experience with the operative management of asphyxiating thoracic dystrophy after pectus repair. ( 15868580
)
|
Weber TR
|
2005 |
| 29 |
Jeune thoracic dystrophy with right sided diaphragmatic hernia. ( 15812132
)
|
Kalappanavar NK...Chidanand S
|
2005 |
| 30 |
Asphyxiating thoracic dystrophy and syndactyly of the toes in a newborn: coincidence or a new association? ( 12725597
)
|
Tastekin A...Ors R
|
2003 |
| 31 |
Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy). ( 12800072
)
|
Yerian LM...Hart J
|
2003 |
| 32 |
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. ( 12807964
)
|
Morgan NV...Johnson CA
|
2003 |
| 33 |
Long-term follow-up of asphyxiating thoracic dystrophy: results of first report of thoracoplasty. ( 12643436
)
|
Norberg WJ
|
2002 |
| 34 |
Dynamic thoracoplasty for asphyxiating thoracic dystrophy. ( 11722089
)
|
Kaddoura IL...Nasser AA
|
2001 |
| 35 |
Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. ( 10710229
)
|
Ho NC...van Allen M
|
2000 |
| 36 |
Dandy-Walker complex in a child with Jeune's asphyxiating thoracic dystrophy. ( 10876833
)
|
Silengo M...Defilippi C
|
2000 |
| 37 |
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes. ( 10951528
)
|
Krakow D...Cohn DH
|
2000 |
| 38 |
Homologous bone graft for expansion thoracoplasty in Jeune's asphyxiating thoracic dystrophy. ( 10211668
)
|
Aronson DC...Vos A
|
1999 |
| 39 |
Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome). ( 10447085
)
|
Tongsong T...Thongpadungroj T
|
1999 |
| 40 |
Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease. ( 10532174
)
|
Aurora P...Wallis CE
|
1999 |
| 41 |
Chest reconstruction in asphyxiating thoracic dystrophy. ( 9802821
)
|
Sharoni E...Vidne BA
|
1998 |
| 42 |
Operative management of asphyxiating thoracic dystrophy after pectus repair. ( 9498398
)
|
Weber TR...Kurkchubasche AG
|
1998 |
| 43 |
Jeune's asphyxiating thoracic dystrophy of the newborn. ( 9617610
)
|
Sarimurat N...Yeker D
|
1998 |
| 44 |
ASPHYXIATING THORACIC DYSTROPHY. ( 28775457
)
|
Chandar V...Nagi HS
|
1998 |
| 45 |
Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. ( 7702088
)
|
Nagai T...Fukushima Y
|
1995 |
| 46 |
Asphyxiating thoracic dystrophy. ( 8613294
)
|
Umakumaran P...Viswanath D
|
1995 |
| 47 |
Asphyxiating thoracic dystrophy (Jeune's disease): a case report. ( 8055771
)
|
Airede AK
|
1994 |
| 48 |
Asphyxiating thoracic dystrophy: surgical correction and 2-year follow-up in a girl. ( 8086645
)
|
Takada F...Kuroki Y
|
1994 |
| 49 |
A case of Jeune syndrome (asphyxiating thoracic dystrophy). ( 17586875
)
|
Nath RR
|
1994 |
| 50 |
Asphyxiating thoracic dystrophy without respiratory disease. ( 8210547
)
|
Karski T...Wrona J
|
1993 |
