38 related articles for article (PubMed ID: 12794704)
1. Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques.
Venegas-Vega CA; Fernández-Ramírez F; Zepeda LM; Nieto-Martínez K; Gómez-Laguna L; Garduño-Zarazúa LM; Berumen J; Kofman S; Cervantes A
Biomed Res Int; 2013; 2013():209204. PubMed ID: 23484094
[TBL] [Abstract][Full Text] [Related]
2. Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns.
Shimojima Yamamoto K; Tamura T; Okamoto N; Nishi E; Noguchi A; Takahashi I; Sawaishi Y; Shimizu M; Kanno H; Minakuchi Y; Toyoda A; Yamamoto T
J Hum Genet; 2023 Nov; 68(11):751-757. PubMed ID: 37423943
[TBL] [Abstract][Full Text] [Related]
3. Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature.
Xia C; Kumar D; You B; Streck DL; Osborne L; Dermody J; Jiang JG; Pletcher BA
J Pediatr Genet; 2023 Dec; 12(4):312-317. PubMed ID: 38162156
[TBL] [Abstract][Full Text] [Related]
4. Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity.
Aslan H; Karaca N; Basaran S; Ermis H; Ceylan Y
BMC Pregnancy Childbirth; 2003 Jan; 3(1):1. PubMed ID: 12546710
[TBL] [Abstract][Full Text] [Related]
5. Genotype-phenotype correlation of deletions and duplications of 4p: case reports and literature review.
Zhang X; Lu H; Yang H; Ji Y; Liu H; Liu W; Li J; Yang Z; Sun W
Front Genet; 2023; 14():1174314. PubMed ID: 37388934
[TBL] [Abstract][Full Text] [Related]
6. De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies.
Fontana P; Bernardini L; Lombardi C; Giuffrida MG; Ciavarella M; Capalbo A; Maioli M; Scarano F; Cantalupo G; Falco M; Scarano G; Lonardo F
J Pediatr Genet; 2021 Sep; 10(3):245-249. PubMed ID: 34504730
[TBL] [Abstract][Full Text] [Related]
7. Recombinant chromosome 4 in two fetuses - case report and literature review.
Wu Y; Wang Y; Wen SW; Zhao X; Hu W; Liu C; Gao L; Zhang Y; Wang S; Yang X; He B; Cheng W
Mol Cytogenet; 2018; 11():48. PubMed ID: 30166997
[TBL] [Abstract][Full Text] [Related]
8. Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Tabet AC; Verloes A; Pilorge M; Delaby E; Delorme R; Nygren G; Devillard F; Gérard M; Passemard S; Héron D; Siffroi JP; Jacquette A; Delahaye A; Perrin L; Dupont C; Aboura A; Bitoun P; Coleman M; Leboyer M; Gillberg C; Benzacken B; Betancur C
Mol Autism; 2015; 6():19. PubMed ID: 25844147
[TBL] [Abstract][Full Text] [Related]
9. Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres.
Daniel A; St Heaps L; Sylvester D; Diaz S; Peters G
Cell Chromosome; 2008 Mar; 7():1. PubMed ID: 18331649
[TBL] [Abstract][Full Text] [Related]
10. Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Case report and review of the literature.
Dietze I; Fritz B; Huhle D; Simoens W; Piecha E; Rehder H
Fetal Diagn Ther; 2004; 19(3):251-60. PubMed ID: 15067236
[TBL] [Abstract][Full Text] [Related]
11. A rec(4) dup 4p inherited from a maternal inv(4)(p15q35): case report and review.
Garcia-Heras J; Martin J
Am J Med Genet; 2002 May; 109(3):226-30. PubMed ID: 11977183
[TBL] [Abstract][Full Text] [Related]
12. Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome.
Kondoh Y; Toma T; Ohashi H; Harada N; Yoshiura K; Ohta T; Kishino T; Niikawa N; Matsumoto N
Am J Med Genet A; 2003 Jul; 120A(1):123-6. PubMed ID: 12794704
[TBL] [Abstract][Full Text] [Related]
13. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
Beaujard MP; Jouannic JM; Bessières B; Borie C; Martin-Luis I; Fallet-Bianco C; Portnoï MF
Prenat Diagn; 2005 Jun; 25(6):451-5. PubMed ID: 15966060
[TBL] [Abstract][Full Text] [Related]
14. Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome.
Paskulin GA; Riegel M; Cotter PD; Kiss A; Rosa RF; Zen PR; Mombach R; Graziadio C
Am J Med Genet A; 2009 Jun; 149A(6):1302-7. PubMed ID: 19449429
[TBL] [Abstract][Full Text] [Related]
15. Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter).
Syrrou M; Borghgraef M; Fryns JP
Am J Med Genet; 2001 Dec; 104(3):199-203. PubMed ID: 11754044
[TBL] [Abstract][Full Text] [Related]
16.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
17.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]