Detalhe da pesquisa
1.
MECP2 duplication syndrome in a patient from Cameroon.
Am J Med Genet A
; 182(4): 619-622, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32052928
2.
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Am J Hum Genet
; 92(3): 439-47, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23453669
3.
Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome.
Psychiatry Res
; 196(2-3): 277-84, 2012 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-22377578
4.
Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents.
J Pediatr Endocrinol Metab
; 35(6): 777-783, 2022 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499511
5.
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.
Genet Med
; 13(9): 841-7, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21555946
6.
Observational study of disorders of sex development in Yaounde, Cameroon.
J Pediatr Endocrinol Metab
; 33(3): 417-423, 2020 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32069241
7.
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events.
Am J Med Genet A
; 146A(16): 2086-93, 2008 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18627064
8.
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.
Am J Med Genet A
; 146A(16): 2094-102, 2008 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18629875
9.
Derivation of the first Swiss human embryonic stem cell line from a single blastomere of an arrested four-cell stage embryo.
Swiss Med Wkly
; 138(37-38): 540-50, 2008 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-18803035
10.
The 22q11.2 Deletion Syndrome in Congenital Heart Defects: Prevalence of Microdeletion Syndrome in Cameroon.
Glob Heart
; 12(2): 115-120, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28302550
11.
No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome.
Am J Psychiatry
; 163(3): 537-9, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16513880
12.
Laparoscopic-assisted vaginal pull-through: A new approach for congenital adrenal hyperplasia patients with high urogenital sinus.
Afr J Paediatr Surg
; 12(3): 177-80, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26612122
13.
An excess of chromosome 1 breakpoints in male infertility.
Eur J Hum Genet
; 12(12): 993-1000, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15367911
14.
Parental decisions following the prenatal diagnosis of sex chromosome abnormalities.
Eur J Obstet Gynecol Reprod Biol
; 116(1): 58-62, 2004 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-15294369
15.
Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon.
Mol Syndromol
; 5(6): 287-92, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25565928
16.
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.
EMBO Mol Med
; 6(2): 259-77, 2014 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375627
17.
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations.
Eur J Med Genet
; 56(8): 404-10, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23791568
18.
A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis.
Horm Res Paediatr
; 78(3): 188-92, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22441105
19.
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?
Eur J Med Genet
; 55(1): 63-6, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22080113
20.
Down syndrome: parental origin, recombination, and maternal age.
Genet Test Mol Biomarkers
; 16(1): 70-3, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21861707