Search details
1.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Article
in English
| MEDLINE | ID: mdl-29290338
2.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30275510
3.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30190611
4.
Congenital extremity anomalies with a TBX5 pathogenic variant in consecutive IVF assisted pregnancies: a case report of Holt-Oram Syndrome.
J Obstet Gynaecol
; 42(3): 524-526, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-34159885
5.
Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies.
Genet Med
; 16(5): 419-22, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24091801
6.
Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.
Am J Med Genet A
; 155A(7): 1605-15, 2011 Jul.
Article
in English
| MEDLINE | ID: mdl-21671377
7.
Noninvasive Prenatal Testing and Detection of Maternal Cancer.
JAMA
; 314(2): 131-3, 2015 Jul 14.
Article
in English
| MEDLINE | ID: mdl-26168080
8.
Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.
Am J Med Genet A
; 149A(12): 2788-94, 2009 Dec.
Article
in English
| MEDLINE | ID: mdl-19921640
9.
LabCorp v. Metabolite Laboratories: The Supreme Court listens, but declines to speak.
J Law Med Ethics
; 36(1): 141-9, 4, 2008.
Article
in English
| MEDLINE | ID: mdl-18315767
10.
Medical legal issues in prenatal diagnosis.
Clin Perinatol
; 34(2): 287-97, vi, 2007 Jun.
Article
in English
| MEDLINE | ID: mdl-17572235
11.
Antibiotic prophylaxis before amniocentesis.
Prenat Diagn
; 31(12): 1213-4; author reply 1215, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-22120439
12.
Late first-trimester placental disruption and subsequent gestational hypertension/preeclampsia.
Obstet Gynecol
; 105(3): 587-92, 2005 Mar.
Article
in English
| MEDLINE | ID: mdl-15738029
13.
The mid-trimester genetic sonogram.
Semin Perinatol
; 29(4): 209-14, 2005 Aug.
Article
in English
| MEDLINE | ID: mdl-16104670
14.
Pregnancy-associated plasma protein A, free beta-hCG, nuchal translucency, and risk of pregnancy loss.
Obstet Gynecol
; 104(1): 30-6, 2004 Jul.
Article
in English
| MEDLINE | ID: mdl-15228997
15.
Sequential pathways of testing after first-trimester screening for trisomy 21.
Obstet Gynecol
; 104(4): 661-6, 2004 Oct.
Article
in English
| MEDLINE | ID: mdl-15458882
16.
Combined serum and ultrasound screening for detection of fetal aneuploidy.
Semin Perinatol
; 27(2): 145-51, 2003 Apr.
Article
in English
| MEDLINE | ID: mdl-12769200
17.
Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.
J Child Neurol
; 24(5): 618-24, 2009 May.
Article
in English
| MEDLINE | ID: mdl-19151366
18.
Proteomics: a novel methodology to complement prenatal diagnosis of chromosomal abnormalities and inherited human diseases.
Am J Perinatol
; 24(3): 167-81, 2007 Mar.
Article
in English
| MEDLINE | ID: mdl-17372862
19.
Fragile X syndrome carrier screening in the prenatal genetic counseling setting.
Genet Med
; 7(4): 246-50, 2005 Apr.
Article
in English
| MEDLINE | ID: mdl-15834242
20.
Elevated first-trimester nuchal translucency increases the risk of congenital heart defects.
Am J Obstet Gynecol
; 192(5): 1357-61, 2005 May.
Article
in English
| MEDLINE | ID: mdl-15902108