R E Falk
Overview
Explore the profile of R E Falk including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
154
Citations
731
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Kupelian A, Falk R, Klein J, Fournier P, Fischel-Ghodsian N
J Genet Couns
. 2013 Nov;
5(1):17-26.
PMID: 24234559
A healthy woman sought preconceptional genetic counseling regarding a family history of a mitochondrial myopathy in her brother and retinitis pigmentosa (RP) in her two maternal aunts. Several questions were...
2.
Nowaczyk M, Thompson B, Zeesman S, Moog U, Sanchez-Lara P, Magoulas P, et al.
Clin Genet
. 2013 Feb;
85(2):138-46.
PMID: 23379592
RASopathies are a class of genetic syndromes caused by germline mutations in genes encoding Ras/mitogen-activated protein kinase (Ras/MAPK) pathway components. Cardio-facio-cutaneous (CFC) syndrome is a RASopathy characterized by distinctive craniofacial...
3.
Callum P, Messiaen L, Bower P, Skovby F, Iger J, Timshel S, et al.
Hum Reprod
. 2012 Feb;
27(4):1223-6.
PMID: 22328556
Background: Screening of gamete donors can reduce but cannot eliminate the risks for medical problems in donor-conceived offspring. We present a case of gonosomal mosaicism discovered in an anonymous sperm...
4.
Dong L, Falk R, Williams 3rd J, Kohan M, Schreck R
Prenat Diagn
. 2003 Feb;
23(2):101-3.
PMID: 12575013
CVS direct preparations usually achieve limited resolution and are better at detecting numerical rather than structural abnormalities. A CVS direct preparation analyzed using G-banding revealed a 47,XY,+G karyotype in 5...
5.
Bergwerk K, Falk R, Glasgow B, Rabinowitz Y
Ophthalmic Genet
. 2000 Apr;
21(1):17-20.
PMID: 10779845
Purpose: To illustrate a good visual outcome following penetrating keratoplasty in a patient with Sly disease, a rare mucopolysaccharidosis (MPS) caused by a deficiency of beta-glucuronidase. Methods: A 15-year-old male...
6.
Hsu W, Shchepin D, Mao R, Berry-Kravis E, Garber A, Fischel-Ghodsian N, et al.
Am J Med Genet
. 1999 Jan;
80(5):473-80.
PMID: 9880211
Trisomy 16, once thought to result uniformly in early pregnancy loss, has been detected in chorionic villus samples (CVS) from on-going pregnancies and was initially ascribed to a second, nonviable...
7.
Wilkin D, Mortier G, Johnson C, Jones M, De Paepe A, Shohat M, et al.
Am J Med Genet
. 1998 Nov;
80(2):121-7.
PMID: 9805127
The clinical findings of eight families with Stickler syndrome were analyzed and compared with the results of linkage studies using a marker for the type II collagen gene (COL2A1). In...
8.
Moffat Jr F, Falk R
Recent Results Cancer Res
. 1998 Jul;
146:71-83.
PMID: 9670251
In a small proportion of patients with extensive primary or locally recurrent rectal cancer, disease remains confined to the pelvis for a prolonged period. Symptoms are highly prejudicial to quality...
9.
Yano S, Falk R, Natowicz M, Williams J
Eur J Pediatr
. 1997 Aug;
156(8):661-3.
PMID: 9266203
No abstract available.
10.
Fischel-Ghodsian N, Prezant T, Chaltraw W, Wendt K, Nelson R, Arnos K, et al.
Am J Otolaryngol
. 1997 May;
18(3):173-8.
PMID: 9164619
Purpose: Aminoglycoside-induced deafness caused by mutations in the mitochondrial 12S ribosomal RNA gene has been described in a number of Asian patients. The purpose of the current study is to...