Pascal and Francis Bibliographic Databases

Help

Search results

Your search

kw.\*:("Partial trisomy")

Document Type [dt]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Publication Year[py]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Discipline (document) [di]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Language

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Author Country

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Results 1 to 25 of 796

  • Page / 32
Export

Selection :

  • and

Le syndrome trisomie pour la partie terminale du bras long du chromosome 4 = The 49 trisomy syndromeSTOLL, C; ROTH, M.-P; DOTT, B et al.Annales de pédiatrie (Paris). 1985, Vol 32, Num 6, pp 527-530, issn 0066-2097Article

A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter → 22ql2.1 : Clinical, cytogenetic and molecular observationsVAGLIO, Alicia; MILUNSKY, Aubrey; HUANG, Xin-Li et al.European journal of medical genetics. 2008, Vol 51, Num 4, pp 332-342, issn 1769-7212, 11 p.Article

PARTIAL TRISOMY 3p24.3 AND PARTIAL MONOSOMY 5p15.33: CASE REPORT AND A LITERATURE REVIEWPUVABANDITSIN, ByS; MEMON, N; LAMBERT, G et al.Genetic counseling. 2013, Vol 24, Num 1, pp 13-20, issn 1015-8146, 8 p.Article

Cryptic trisomy 5q35.2qter and deletion lp36.3 characterised using FISH and array-based CGHUTINE, Eda G; ALANAY, Yasemin; AKTAS, Dilek et al.European journal of medical genetics. 2008, Vol 51, Num 4, pp 343-350, issn 1769-7212, 8 p.Article

Direct tandem duplication in chromosome 19q characterized by array CGHPALOMARES BRALO, Maria; DELICADO, Alicia; LAPUNZINA, Pablo et al.European journal of medical genetics. 2008, Vol 51, Num 3, pp 257-263, issn 1769-7212, 7 p.Article

Duplicación parcial del cromosoma 4q (q31, q35) : síndrome aurículo-acro-renal = PARTIAL DUPLICATION OF CHROMOSOME 4Q (Q31, Q35) : AURICULO-ACRO-RENAL SYNDROMECARRASCOSA ROMERO, M; GARCIA MIALDEA, O; COMPANY, A. Vidal et al.Anales de pediatria (2003. Ed. impresa). 2008, Vol 68, Num 4, pp 361-364, issn 1695-4033, 4 p.Article

Pure partial trisomy of 6p12.1-p22.1 secondary to a familial 12/6 insertion in two malformed babiesFOGU, Giuseppina; BANDIERA, Pasquale; CAMBOSU, Francesca et al.European journal of medical genetics. 2007, Vol 50, Num 2, pp 103-111, issn 1769-7212, 9 p.Article

Prenatal diagnosis of a fetus with partial trisomy 7pOZGUN, Mahmut Tuncay; BATUKAN, Cem; BASBUG, Mustafa et al.Fetal diagnosis and therapy. 2007, Vol 22, Num 3, pp 229-232, issn 1015-3837, 4 p.Article

Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7pAHLBOM, Bodil Edman; WAHLSTRÖM, Jan; SAALMAN, Robert et al.Annales de génétique (Paris). 2003, Vol 46, Num 1, pp 29-35, issn 0003-3995, 7 p.Article

A third case of de novo partial trisomy 4 pOORTHUYS, J. W. E; GERSSEN-SCHOORL, K. B. J; DE PATER, J. M et al.Journal of medical genetics. 1989, Vol 26, Num 5, pp 344-345, issn 0022-2593, 2 p.Article

Trisomy 3p syndrome: report of a new case, due to a chromosomal insertionORYE, E; LAUREYS, G.Annales de génétique (Paris). 1984, Vol 27, Num 4, pp 245-247, issn 0003-3995Article

A new case of partial 2p trisomy due to de novo interstitial duplication 2p21-22PARRUTI, G; DI ILIO, C; CALABRESE, G et al.Annales de génétique (Paris). 1989, Vol 32, Num 1, pp 55-58, issn 0003-3995, 4 p.Article

Partial trisomy 12q24.31→qterTAJARA, E. H; VARELLA-GARCIA, M; TONELLI GUSSON, A. C et al.Journal of medical genetics. 1985, Vol 22, Num 1, pp 73-76, issn 0022-2593Article

The phenotypic and cytogenetic spectrum of partial trisomy 9WILSON, G. N; RAJ, A; BAKER, D et al.American journal of medical genetics. 1985, Vol 20, Num 2, pp 277-282, issn 0148-7299Article

De novo partial trisomy 15q (proximal type)HERWEIJER, T. J; OORTHUYS, J. W. E; LESCHOT, N. J et al.Journal of medical genetics. 1988, Vol 25, Num 4, pp 260-262, issn 0022-2593Article

Trisomy 9 (pter→q1 to q3): the phenotype as an objective aid to karyotypic interpretationPREUS, M; SCHINZEL, A; AYME, S et al.Clinical genetics. 1984, Vol 26, Num 1, pp 52-55, issn 0009-9163Article

Two cases of partial trisomy 21 (pter-q22.1) without the major features of down syndromeKONDO, Yoko; MIZUNO, Seiji; OHARA, Kei et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 3, pp 227-232, issn 1552-4825, 6 p.Article

Array-CGH study of Partial Trisomy 9p Without Mental RetardationINESSE BEN ABDALLAH BOUHJAR; HANNACHI, Hanane; SOUMAYA MOUGOU ZERELLI et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 7, pp 1735-1739, issn 1552-4825, 5 p.Article

Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocationKUPCHIK, Gabriel S; BARRETT, Shannon K; BABU, Arvind et al.European journal of medical genetics. 2005, Vol 48, Num 1, pp 57-65, issn 1769-7212, 9 p.Article

ARRAY-CGH AND CLINICAL FINDINGS IN A PATIENT WITH A SMALL SUPERNUMERARY r(8) MOSAICISMCELEP EYÜPOGLU, F; SÜNNETCI, D; CINE, N et al.Genetic counseling. 2014, Vol 25, Num 3, pp 305-313, issn 1015-8146, 9 p.Article

Partial trisomy 18q11.2→qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridizationSEMERCI, C. Nur; BAHCE, Muhterem; ATIK, Fatih et al.Annales de génétique (Paris). 2004, Vol 47, Num 4, pp 393-398, issn 0003-3995, 6 p.Article

Cryptic duplication of the distal segment of 22q due to a translocation (21;22) : three case reports and a review of the literatureFEENSTRA, I; KOOLEN, D. A; VAN DER PAS, J et al.European journal of medical genetics. 2006, Vol 49, Num 5, pp 384-395, issn 1769-7212, 12 p.Article

A case of partial trisomy of chromosome 8p associated with autismPAPANIKOLAOU, Katerina; PALIOKOSTA, Elena; GYFTODIMOU, Jolanda et al.Journal of autism and developmental disorders. 2006, Vol 36, Num 5, pp 705-709, issn 0162-3257, 5 p.Article

Partial trisomy 8q and partial monosomy 18p: a case reportPUVABANDITSIN, S; GARROW, E; RABI, F. A et al.Annales de génétique (Paris). 2004, Vol 47, Num 4, pp 399-403, issn 0003-3995, 5 p.Article

A 15 Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndromeZWEIER, Christiane; TRAUTMANN, Udo; EKICI, Arif et al.European journal of medical genetics. 2008, Vol 51, Num 4, pp 358-361, issn 1769-7212, 4 p.Article

  • Page / 32