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Kwame Anyane-Yeboa

Research Profile

Disorders

Anatomy

Physiology

Chemicals & Drugs

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Infants

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Genetic Counseling

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Publications

TOP 3
Val Zvereff; Kwame Anyane-Yeboa; Huong Cabral; Lori Carpenter; Dagny Patton; Debra Rita; Larry White; Ashley Wilson; Kenneth J Friedman
Molecular diagnostic dilemmas in Rett syndrome.
Gerald G Behr; Vincent Beltroni; Jocelyn Compton; Maria C Garzon; Stephen J Kovacs; Rachel Landres; Christine T Lauren; Leonardo Liberman; Philip M Meyers; Kimberly D Morel; Thomas J Starc; Kwame Anyane-Yeboa; Emile Bacha; Jessica J Kandel
CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy.
Edina Torgyekes; Dorothy Warburton; Odelia Nahum; Sara Pirzadeh; Alan L Shanske; Kwame Anyane-Yeboa; Einat Blumfield; Vaidehi Jobanputra; Brynn Levy
The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.

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All Publications

2012: Val Zvereff; Kwame Anyane-Yeboa; Huong Cabral; Lori Carpenter; Dagny Patton; Debra Rita; Larry White; Ashley Wilson; Kenneth J Friedman
Molecular diagnostic dilemmas in Rett syndrome.
Brain & development 2012;34(9):750-5.
2012: Gerald G Behr; Vincent Beltroni; Jocelyn Compton; Maria C Garzon; Stephen J Kovacs; Rachel Landres; Christine T Lauren; Leonardo Liberman; Philip M Meyers; Kimberly D Morel; Thomas J Starc; Kwame Anyane-Yeboa; Emile Bacha; Jessica J Kandel
CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy.
Vascular cell 2012;4(1):19.
2011: Edina Torgyekes; Dorothy Warburton; Odelia Nahum; Sara Pirzadeh; Alan L Shanske; Kwame Anyane-Yeboa; Einat Blumfield; Vaidehi Jobanputra; Brynn Levy
The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
American journal of medical genetics. Part A 2011;155A(8):1884-96.
2010: Sibel Kantarci; Kate G Ackerman; Meaghan K Russell; Mauro Longoni; Carrie Sougnez; Kristin M Noonan; Eli Hatchwell; Xiaoyun Zhang; Rafael Pieretti Vanmarcke; Kwame Anyane-Yeboa; Paul Dickman; Jay Wilson; Patricia K Donahoe; Barbara R Pober
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.
American journal of medical genetics. Part A 2010;152A(10):2493-504.
2009: Vaidehi Jobanputra; Erin Ash; Kwame Anyane-Yeboa; Dorothy Warburton; Brynn Levy
Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling.
American journal of medical genetics. Part A 2009;149A(6):1310-4.
2009: Tamar Lubell; Maria C Garzon; Kwame Anyane-Yeboa; Bina Shah
A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis.
Journal of clinical research in pediatric endocrinology 2009;1(5):244-7.
2008: Diane Rhee; David Solowiejczyk; Karen Altmann; Ashwin Prakash; Welton M Gersony; Charles Stolar; Charles Kleinman; Kwame Anyane-Yeboa; Wendy Chung; Daphne Hsu
Incidence of aortic root dilatation in pectus excavatum and its association with Marfan syndrome.
Archives of pediatrics & adolescent medicine 2008;162(9):882-5.
2005: Lindy P Fox; Adam S Geyer; Kwame Anyane-Yeboa; Maria C Garzon
Cutis verticis gyrata in a patient with Noonan syndrome.
Pediatric dermatology 2005;22(2):142-6.
2005: Christina Sobin; Karen Kiley-Brabeck; Sarah Daniels; Jananne Khuri; Lisa Taylor; Maude L Blundell; Kwame Anyane-Yeboa; Maria Karayiorgou
Neuropsychological characteristics of children with the 22q11 Deletion Syndrome: a descriptive analysis.
Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 2005;11(1):39-53.
2005: Vaidehi Jobanputra; Jonathan Sebat; Jennifer Troge; Wendy Chung; Kwame Anyane-Yeboa; Michael Wigler; Dorothy Warburton
Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(2):111-8.
2004: Christina Sobin; Karen Kiley-Brabeck; Sarah Daniels; Maude L Blundell; Kwame Anyane-Yeboa; Maria Karayiorgou
Networks of attention in children with the 22q11 deletion syndrome.
Developmental neuropsychology 2004;26(2):611-26.
2003: J Levy; Wendy Chung; Maria C Garzon; Mary Pat Gallagher; Sharon E Oberfield; E Lieber; Kwame Anyane-Yeboa
Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: a new genetic syndrome?
American journal of medical genetics. Part A 2003;116A(1):20-5.
2002: Peter B Cserhalmi-Friedman; Kwame Anyane-Yeboa; Angela M Christiano
Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa.
Experimental dermatology 2002;11(5):468-70.
2002: Maryann L Huie; Kwame Anyane-Yeboa; Edwin Guzman; Rochelle Hirschhorn
Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.
American journal of human genetics 2002;70(4):1054-7.
2002: Roberto Fernandez-Hojas; Maryann L Huie; Carmen Navarro; Carmen Dominguez; Manuel Roig; Diana Lopez-Coronas; Susana Teijeira; Kwame Anyane-Yeboa; Rochelle Hirschhorn
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
Neuromuscular disorders : NMD 2002;12(2):159-66.
2001: David M Sherer; H Shane; Kwame Anyane-Yeboa
First-trimester transvaginal ultrasonographic diagnosis of Dandy-Walker malformation.
American journal of perinatology 2001;18(7):373-7.
2001: Peter B Cserhalmi-Friedman; Maria C Garzon; E Guzman; Amalia Martinez-Mir; Wendy Chung; Kwame Anyane-Yeboa; Angela M Christiano
Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 2001;117(5):1327-8.
1997: Denise S O'Keefe; Dee N Dao; L Zhao; R Sanderson; Dorothy Warburton; L Weiss; Kwame Anyane-Yeboa; Benjamin Tycko
Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors.
American journal of human genetics 1997;61(2):295-303.