Detalhe da pesquisa
1.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
J Med Genet
; 59(6): 559-567, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820833
2.
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Am J Hum Genet
; 100(4): 659-665, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28318499
3.
Understanding high rates of stillbirth and neonatal death in a disadvantaged, high-migrant district in France: A perinatal audit.
Acta Obstet Gynecol Scand
; 99(9): 1163-1173, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32155659
4.
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.
Prenat Diagn
; 36(13): 1270-1275, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27859469
5.
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Pediatr Radiol
; 45(7): 965-76, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25646736
6.
Antiphospholipid syndrome and other autoimmune diseases associated with chronic intervillositis.
Arch Gynecol Obstet
; 291(6): 1229-36, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25416199
7.
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
Nat Genet
; 38(2): 191-6, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16415887
8.
Low autopsy acceptance after stillbirth in a disadvantaged French district: a mixed methods study.
BMC Pregnancy Childbirth
; 19(1): 117, 2019 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30953470
9.
Prenatal assessment of a fast-growing giant epignathus.
Fetal Pediatr Pathol
; 33(1): 55-9, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24164281
10.
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
Acta Neuropathol
; 126(3): 427-42, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23820807
11.
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Brain
; 135(Pt 2): 469-82, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22323514
12.
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
J Med Genet
; 49(11): 698-707, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23024289
13.
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.
Eur J Med Genet
; 63(4): 103814, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31770597
14.
Fetal death in primary SS associated with chronic intervillositis.
Rheumatology (Oxford)
; 51(6): 1136-7, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22337943
15.
Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.
J Neuropathol Exp Neurol
; 75(3): 227-38, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26865159
16.
[Audit of obstetrical practices and prevention of perinatal deaths]. / Audit des pratiques obstétricales: influence sur la mortalité périnatale.
Bull Acad Natl Med
; 189(1): 71-84; discussion 84-5, 2005 Jan.
Artigo
em Francês
| MEDLINE | ID: mdl-16119881
17.
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.
Am J Case Rep
; 16: 882-5, 2015 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26670660
18.
Chronic histiocytic intervillositis: outcome, associated diseases and treatment in a multicenter prospective study.
Autoimmunity
; 48(1): 40-5, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25028066
19.
3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.
Mol Cytogenet
; 7(1): 59, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25320640
20.
Three-dimensional ultrasound in prenatal diagnosis of isolated otocephaly.
Prenat Diagn
; 27(5): 481-3, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17471605