630 related articles for article (PubMed ID: 9682215)
1. An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.
Lin Z; deMello DE; Wallot M; Floros J
Mol Genet Metab; 1998 May; 64(1):25-35. PubMed ID: 9682215
[TBL] [Abstract][Full Text] [Related]
2. Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.
Tredano M; van Elburg RM; Kaspers AG; Zimmermann LJ; Houdayer C; Aymard P; Hull WM; Whitsett JA; Elion J; Griese M; Bahuau M
Hum Mutat; 1999; 14(6):502-9. PubMed ID: 10571948
[TBL] [Abstract][Full Text] [Related]
3. Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.
Andersen BD; Lind B; Philips M; Hansen AB; Ingerslev J; Thorsen S
Thromb Haemost; 1996 Aug; 76(2):143-50. PubMed ID: 8865520
[TBL] [Abstract][Full Text] [Related]
4. Congenital alveolar proteinosis in the Netherlands: a report of five cases with immunohistochemical and genetic studies on surfactant apoproteins.
de la Fuente AA; Voorhout WF; deMello DE
Pediatr Pathol Lab Med; 1997; 17(2):221-31. PubMed ID: 9086529
[TBL] [Abstract][Full Text] [Related]
5. Partial deficiency of surfactant protein B in an infant with chronic lung disease.
Ballard PL; Nogee LM; Beers MF; Ballard RA; Planer BC; Polk L; deMello DE; Moxley MA; Longmore WJ
Pediatrics; 1995 Dec; 96(6):1046-52. PubMed ID: 7491219
[TBL] [Abstract][Full Text] [Related]
6. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
Tsuruta M; Mitsubuchi H; Mardy S; Miura Y; Hayashida Y; Kinugasa A; Ishitsu T; Matsuda I; Indo Y
J Hum Genet; 1998; 43(2):91-100. PubMed ID: 9621512
[TBL] [Abstract][Full Text] [Related]
7. Aberrant SP-B mRNA in lung tissue of patients with congenital alveolar proteinosis (CAP).
Lin Z; deMello DE; Batanian JR; Khammash HM; DiAngelo S; Luo J; Floros J
Clin Genet; 2000 May; 57(5):359-69. PubMed ID: 10852370
[TBL] [Abstract][Full Text] [Related]
8. Surfactant protein B deficiency caused by a novel mutation involving multiple exons of the SP-B gene.
Schuerman FA; Griese M; Gille JP; Brasch F; Noorduyn LA; van Kaam AH
Eur J Med Res; 2008 Jun; 13(6):281-6. PubMed ID: 18558554
[TBL] [Abstract][Full Text] [Related]
9. Molecular and phenotypic variability in the congenital alveolar proteinosis syndrome associated with inherited surfactant protein B deficiency.
deMello DE; Nogee LM; Heyman S; Krous HF; Hussain M; Merritt TA; Hsueh W; Haas JE; Heidelberger K; Schumacher R
J Pediatr; 1994 Jul; 125(1):43-50. PubMed ID: 8021783
[TBL] [Abstract][Full Text] [Related]
10. [Clinical, biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism: SP-B deficiency and alveolar proteinosis].
Tredano M; Blic JD; Griese M; Fournet JC; Elion J; Bahuau M
Ann Biol Clin (Paris); 2001; 59(2):131-48. PubMed ID: 11282516
[TBL] [Abstract][Full Text] [Related]
11. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Iacobazzi V; Invernizzi F; Baratta S; Pons R; Chung W; Garavaglia B; Dionisi-Vici C; Ribes A; Parini R; Huertas MD; Roldan S; Lauria G; Palmieri F; Taroni F
Hum Mutat; 2004 Oct; 24(4):312-20. PubMed ID: 15365988
[TBL] [Abstract][Full Text] [Related]
12. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
13. A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.
Nogee LM; Garnier G; Dietz HC; Singer L; Murphy AM; deMello DE; Colten HR
J Clin Invest; 1994 Apr; 93(4):1860-3. PubMed ID: 8163685
[TBL] [Abstract][Full Text] [Related]
14. [Analysis, identification and correction of some errors of model refseqs appeared in NCBI Human Gene Database by in silico cloning and experimental verification of novel human genes].
Zhang DL; Ji L; Li YD
Yi Chuan Xue Bao; 2004 May; 31(5):431-43. PubMed ID: 15478601
[TBL] [Abstract][Full Text] [Related]
15. [Clinical thinking and decision making in practice: a full-term neonate with misunderstood respiratory insufficiency].
van Heijst AF; Semmekrot BA; Kollée LA; van de Bor M
Ned Tijdschr Geneeskd; 1999 Jun; 143(24):1256-60. PubMed ID: 10396336
[TBL] [Abstract][Full Text] [Related]
16. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.
Wang D; Wu B; Li Y; Heng W; Zhong H; Mu Y; Wang J
J Hum Genet; 2001; 46(3):152-4. PubMed ID: 11310584
[TBL] [Abstract][Full Text] [Related]
17. Factor XIII(A) subunit deficiency due to a homozygous 13-base pair deletion in exon 3 of the A subunit gene.
Aslam S; Bowen DJ; Mandalaki T; Gialeraki R; Standen GR
Am J Hematol; 1996 Oct; 53(2):77-80. PubMed ID: 8892731
[TBL] [Abstract][Full Text] [Related]
18. Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.
Gastier JM; Berg MA; Vesterhus P; Reiter EO; Francke U
Hum Mutat; 2000 Oct; 16(4):323-33. PubMed ID: 11013443
[TBL] [Abstract][Full Text] [Related]
19. Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency.
Nogee LM; Wert SE; Proffit SA; Hull WM; Whitsett JA
Am J Respir Crit Care Med; 2000 Mar; 161(3 Pt 1):973-81. PubMed ID: 10712351
[TBL] [Abstract][Full Text] [Related]
20. Genetic bases of human complement C7 deficiency.
Nishizaka H; Horiuchi T; Zhu ZB; Fukumori Y; Volanakis JE
J Immunol; 1996 Nov; 157(9):4239-43. PubMed ID: 8892662
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]