Detalhe da pesquisa
1.
Array-comparative genomic hybridization analysis in patients with Müllerian fusion anomalies.
Clin Genet
; 93(3): 640-646, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29068465
2.
Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome.
Clin Genet
; 89(5): 590-6, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26610373
3.
[Genetic aspects of fertility disorders]. / Genetische Aspekte bei Störungen der Fertilität.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 56(12): 1642-52, 2013 Dec.
Artigo
em Alemão
| MEDLINE | ID: mdl-24337126
4.
BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families.
Clin Genet
; 82(5): 478-83, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21919902
5.
Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.
Hum Reprod
; 27(9): 2872-5, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22740494
6.
Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.
Hum Reprod
; 25(10): 2637-46, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20685758
7.
Blood chimerism in a girl with Down syndrome and possible freemartin effect leading to aplasia of the Müllerian derivatives.
Hum Reprod
; 25(5): 1339-43, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20190264
8.
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
J Med Genet
; 46(6): 389-98, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19346217
9.
Variations of sex development: The first German interdisciplinary consensus paper.
J Pediatr Urol
; 15(2): 114-123, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30713084
10.
PLAG1 activation in lipoblastoma coinciding with low-level amplification of a derivative chromosome 8 with a deletion del(8)(q13q21.2).
Cytogenet Genome Res
; 119(1-2): 33-8, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-18160779
11.
Distribution of sex chromosomes in dysgenetic gonads of mixed type.
Cytogenet Genome Res
; 116(1-2): 146-51, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17268195
12.
Cloning of Z39Ig, a novel gene with immunoglobulin-like domains located on human chromosome X.
Biochim Biophys Acta
; 1492(2-3): 522-5, 2000 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-11004523
13.
Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14.
Cytogenet Genome Res
; 108(4): 283-6, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15627746
14.
Experts' Opinion on the Prenatal Therapy of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency - Guideline of DGKED in cooperation with DGGG (S1-Level, AWMF Registry No. 174/013, July 2015).
Geburtshilfe Frauenheilkd
; 75(12): 1232-1238, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28435171
15.
Multi-locus (ML)-FISH is a reliable tool for nondisjunction studies in human oocytes.
Cytogenet Genome Res
; 103(1-2): 47-53, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-15004463
16.
Mapping of a further locus for X-linked craniofrontonasal syndrome.
Cytogenet Genome Res
; 99(1-4): 285-8, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12900576
17.
Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq.
Am J Med Genet
; 28(1): 245-53, 1987 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-2890303
18.
A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia.
Am J Med Genet
; 20(4): 597-606, 1985 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-4039531
19.
A(870)E mutation of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and Sertoli cell tumor.
Cancer Genet Cytogenet
; 98(2): 139-41, 1997 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-9332480
20.
A novel translocation (17;19)(p13;p13) in a patient with acute myelomonocytic leukemia.
Cancer Genet Cytogenet
; 119(1): 77-9, 2000 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-10812177