Detalles de la búsqueda
1.
A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease.
Am J Med Genet A
; 191(1): 220-227, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36214313
2.
Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings.
Am J Med Genet A
; 191(8): 2232-2239, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37218527
3.
A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.
Am J Med Genet A
; 188(6): 1890-1895, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35253374
4.
Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey.
Mol Biol Rep
; 48(11): 7371-7378, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34637094
5.
Is cervical swab an efficient method for developing a new noninvasive prenatal diagnostic test for numerical and structural chromosome anomalies?
Turk J Med Sci
; 51(3): 1043-1048, 2021 06 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-33315353
6.
Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.
Cytogenet Genome Res
; 160(6): 309-315, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32599602
7.
Letter to the Editor regarding "New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant" by Kiliç and Kosukçu, "An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant" by Yüksel Ülker et al. and "Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings" by Duzenli et al.
Am J Med Genet A
; 194(4): e63507, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38102793
8.
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.
Am J Hum Genet
; 95(6): 649-59, 2014 Dec 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-25466284
9.
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Am J Hum Genet
; 95(5): 622-32, 2014 Nov 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-25439729
10.
Influence of ABCB1 polymorphisms and serum concentrations on venlafaxine response in patients with major depressive disorder.
Nord J Psychiatry
; 71(3): 230-237, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28079463
11.
Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.
Am J Med Genet A
; 164A(7): 1770-6, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24677787
12.
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Am J Med Genet A
; 164A(2): 291-304, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24194475
13.
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
Am J Hum Genet
; 86(5): 696-706, 2010 May 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-20381006
14.
Rectal duplications accompanying rectovestibular fistula: report of two cases.
Pediatr Int
; 55(4): e86-9, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23910814
15.
Long-term follow-up and novel variant in Suleiman-El-Hattab syndrome: Expanding the genotypic and clinical spectrum of a rare neurodevelopmental disorder.
Eur J Med Genet
; 66(9): 104809, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37474017
16.
Pitt-Hopkins syndrome accompanying hypoxic ischemic encephalopathy in a newborn.
Int J Dev Neurosci
; 82(5): 458-462, 2022 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-35707852
17.
Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome.
Eur J Med Genet
; 64(4): 104186, 2021 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-33662638
18.
Fibrillin-1 gene intron 56 polymorphism in Turkish children with mitral valve prolapse.
Cardiol Young
; 20(2): 173-7, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20199707
19.
Aetiological Evaluation of Oligodontia in a Three-Generation Family.
Oral Health Prev Dent
; 18(1): 271-275, 2020 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32618450
20.
A case of U2AF2-related developmental disorder: long-term follow-up and expansion of the phenotype.
Clin Dysmorphol
; 2024 Jun 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38856638