Lombet J - Search Results

1

Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias.

Verloes A, Raoul M, Genevieve D, Sznajer Y, Demarche M, Lombet J, Rigo V, Misson JP, Collignon L, Vanwijck F, Vanwijck R. Verloes A, et al. Among authors: lombet j. Clin Dysmorphol. 2004 Oct;13(4):205-211. Clin Dysmorphol. 2004. PMID: 15365455

2

Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome.

Herens C, Jamar M, Alvarez-Gonzalez ML, Lesenfants S, Lombet J, Bonnivert J, Koulischer L, Verloes A. Herens C, et al. Among authors: lombet j. Am J Med Genet. 1997 Dec 12;73(2):127-31. doi: 10.1002/(sici)1096-8628(19971212)73:2<127::aid-ajmg5>3.0.co;2-r. Am J Med Genet. 1997. PMID: 9409861

3

Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.

Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E. Verloes A, et al. Among authors: lombet j. Am J Med Genet. 2000 Feb 28;90(5):407-22. doi: 10.1002/(sici)1096-8628(20000228)90:5<407::aid-ajmg11>3.0.co;2-d. Am J Med Genet. 2000. PMID: 10706363

4

[Renal tumors in children. A single center study of 31 cases].

Collins A, Demarche M, Dresse MF, Forget P, Lombet J, Jamblin P, Florkin B, Hoyoux C. Collins A, et al. Among authors: lombet j. Rev Med Liege. 2009 Nov;64(11):552-9. Rev Med Liege. 2009. PMID: 20069968 Free article. French.

5

[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].

Quiros A, Lefèbvre C, Collard L, Rigo V, Lombet J. Quiros A, et al. Among authors: lombet j. Rev Med Liege. 2020 Jul;75(7-8):544-547. Rev Med Liege. 2020. PMID: 32779909 Free article. French.

6

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. Verloes A, et al. Among authors: lombet j. Am J Med Genet. 1997 Feb 11;68(4):391-5. doi: 10.1002/(sici)1096-8628(19970211)68:4<391::aid-ajmg3>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9021008

7

Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.

Verloes A, Massin M, Lombet J, Grattagliano B, Soyeur D, Rigo J, Koulischer L, Van Hoof F. Verloes A, et al. Among authors: lombet j. Am J Med Genet. 1997 Oct 17;72(2):135-42. Am J Med Genet. 1997. PMID: 9382133

8

Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma.

Verloes A, Hermanns-Lê T, Lesenfants S, Lombet J, Lamotte PJ, Crèvecoeur-Liégeois C, Duchesne B, Piérard GE. Verloes A, et al. Among authors: lombet j. Am J Med Genet. 1999 Oct 29;86(5):454-8. Am J Med Genet. 1999. PMID: 10508988

9

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, Kornak U, Lebrun F, Lombet J, Piérard GE, Robinson PN, Symoens S, Van Maldergem L, Debray FG. Jacquinet A, et al. Among authors: lombet j. Eur J Med Genet. 2014 Apr;57(5):230-4. doi: 10.1016/j.ejmg.2014.02.012. Epub 2014 Mar 6. Eur J Med Genet. 2014. PMID: 24613577

10

[How I explore and treat a neonatal renal vein thrombosis: a case report].

Tribolet S, Dresse MF, Lombet J, Rigo V, Pieltain C, Kalenga M. Tribolet S, et al. Among authors: lombet j. Rev Med Liege. 2014 Apr;69(4):169-74. Rev Med Liege. 2014. PMID: 24923095 Free article. French.

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