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[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2].
Arch Pediatr. 2005 Apr;12(4):434-7. doi: 10.1016/j.arcped.2005.01.015.
Arch Pediatr. 2005.
PMID: 15808435
French.
The last fetus was heterozygote for the mutation E20X, allowing the birth at term of a healthy male newborn baby. CONCLUSION: Niemann-Pick type C disease is a rare lysosomal lipid storage disease with severe prognosis. ...
The last fetus was heterozygote for the mutation E20X, allowing the birth at term of a healthy male newborn baby. CONCLUSION: …
Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newborn.
Alameh J, Bachiri A, Devisme L, Truffert P, Rakza T, Riou Y, Manouvrier S, Lequien P, Storme L.
Alameh J, et al. Among authors: manouvrier s.
Eur J Pediatr. 2002 May;161(5):262-6. doi: 10.1007/s00431-002-0927-7. Epub 2002 Mar 23.
Eur J Pediatr. 2002.
PMID: 12012221
The term alveolar capillary dysplasia refers to complex vascular abnormalities which have recently been identified in some infants with persistent pulmonary hypertension. ...
The term alveolar capillary dysplasia refers to complex vascular abnormalities which have recently been identified in some infants wi …
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[Trisomy 18: ultrasound aspects. Report of 40 cases].
Brun L, Dufour P, Savary JB, Valat AS, Boute O, Subtil D, Vaast P, Bourgeot P, Manouvrier S, de Martinville B, Puech F.
Brun L, et al. Among authors: manouvrier s.
Presse Med. 2000 Dec 9;29(38):2082-6.
Presse Med. 2000.
PMID: 11147045
French.
CONCLUSION: The ultrasound signs suggestive of trisomy 18 change according to the term of pregnancy. At the first trimester, most of the signs are nonspecific, such as cystic hydroma or lymphangiectasia, and do not suggest the need for a karyotype. ...
CONCLUSION: The ultrasound signs suggestive of trisomy 18 change according to the term of pregnancy. At the first trimester, most of …
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[Constitutional deficiency of pulmonary surfactant protein B: clinical presentation, histologic and molecular diagnosis].
Tredano M, Cneude F, Denamur E, Truffert P, Capron F, Manouvrier S, Feldmann D, Couderc R, Elion J, Lacaze-Masmonteil T.
Tredano M, et al. Among authors: manouvrier s.
Arch Pediatr. 2000 Jun;7(6):641-4. doi: 10.1016/s0929-693x(00)80133-5.
Arch Pediatr. 2000.
PMID: 10911532
French.
We report a female full-term infant with fatal respiratory failure of early onset due to inherited SP-B deficiency. Lung biopsy was performed at 18 days after birth, with histopathological characterization indicating congenital alveolar proteinosis. ...
We report a female full-term infant with fatal respiratory failure of early onset due to inherited SP-B deficiency. Lung biopsy was p …
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[Stickler's syndrome or hereditary progressive arthro-ophthalmopathy].
De la Chapelle AC, Manouvrier S, Dubos JP, Farriaux JP.
De la Chapelle AC, et al. Among authors: manouvrier s.
Pediatrie. 1988;43(4):305-7.
Pediatrie. 1988.
PMID: 3419872
French.
There is a major risk for the occurrence of serious ocular problems (blindness), and ophthalmologic follow-up has to be performed on affected persons and relatives in order to improve the long term prognosis....
There is a major risk for the occurrence of serious ocular problems (blindness), and ophthalmologic follow-up has to be performed on affecte …
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