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Karen Gripp

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Karen W Gripp; Sara Ennis; Joseph Napoli
Exome analysis in clinical practice: expanding the phenotype of bartsocas-papas syndrome.
Karen W Gripp; Laurie A Demmer
Keratoconus in costello syndrome.
Mary R Sammon; Kerry J Schulze; Katia Sol-Church; Deborah L Stabley; Yewande Alade; Dan Doyle; Julie E Hoover-Fong; Elizabeth Hopkins; John McGready; Karen W Gripp
Normative growth charts for individuals with Costello syndrome.

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All Publications

2013: Karen W Gripp; Sara Ennis; Joseph Napoli
Exome analysis in clinical practice: expanding the phenotype of bartsocas-papas syndrome.
American journal of medical genetics. Part A 2013;161(5):1058-63.
2013: Karen W Gripp; Laurie A Demmer
Keratoconus in costello syndrome.
American journal of medical genetics. Part A 2013;161(5):1132-6.
2012: Mary R Sammon; Kerry J Schulze; Katia Sol-Church; Deborah L Stabley; Yewande Alade; Dan Doyle; Julie E Hoover-Fong; Elizabeth Hopkins; John McGready; Karen W Gripp
Normative growth charts for individuals with Costello syndrome.
American journal of medical genetics. Part A 2012;158A(11):2692-9.
2012: Hannah M Tully; Margaret P Adam; Judith Allanson; Christopher Cunniff; Cynthia J R Curry; Jennifer C Dempsey; Daniel Doherty; Ian Glass; Karen W Gripp; Alasdair Hunter; Gisele E Ishak; Kathleen J Millen; Pedro Sanchez-Lara; William B Dobyns
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
American journal of medical genetics. Part A 2012;158A(10):2393-406.
2012: Karen W Gripp; Elizabeth Hopkins; Stefanie Meien; Katia Sol-Church; Deborah L Stabley; Kathy Vinette; Eugenia Bifeld; Georg Rosenberger
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
American journal of medical genetics. Part A 2012;158A(9):2106-18.
2012: Karen W Gripp; Elizabeth Hopkins; Norma J Leonard; Alvaro Serrano; Deborah L Stabley; Katia Sol-Church
Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.
American journal of medical genetics. Part A 2012;158A(5):1095-101.
2012: Ghayda M Mirzaa; Dawn H Siegel; Robert L Conway; Linda S deVries; John M Graham; Karen W Gripp; Elizabeth Hopkins; Nancy Kramer; Tally Lerman-Sagie; Dorit Lev; William B Dobyns
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
American journal of medical genetics. Part A 2012;158A(2):269-91.
2011: Karen W Gripp; Elizabeth Hopkins; Jennifer J Johnston; Caitlin Krause; William B Dobyns; Leslie G Biesecker
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
American journal of medical genetics. Part A 2011;155A(10):2516-20.
2011: Karen W Gripp; Elizabeth Hopkins; John C Carey; Peter L Geller; Deborah L Stabley; David A Stevenson; Katia Sol-Church
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
American journal of medical genetics. Part A 2011;155A(9):2263-8.
2011: Karen W Gripp
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes.
American journal of medical genetics. Part A 2011;155A(7):1773-4; author reply 1775.
2011: Karen W Gripp; Elizabeth Hopkins; Katia Sol-Church; Deborah L Stabley; Marni E Axelrad; Daniel Doyle; William B Dobyns; Cindy Hudson; John Johnson; Romano Tenconi; Gail E Graham; Ana Berta Sousa; Raoul Heller; Maria Piccione; Giovanni Corsello; Gail E Herman; Marco Tartaglia; Angela E Lin
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
American journal of medical genetics. Part A 2011;155A(4):706-16.
2011: Angela E Lin; Mark E Alexander; Steven D Colan; Bronwyn Kerr; Katherine A Rauen; Jacqueline Noonan; Jeanne Baffa; Elizabeth Hopkins; Katia Sol-Church; Giuseppe Limongelli; Maria Christina Digilio; Bruno Marino; A Micheil Innes; Yoko Aoki; Michael Silberbach; Marie-Ange Delrue; Susan M White; Robert M Hamilton; William O'Connor; Paul D Grossfeld; Leslie B Smoot; Robert F Padera; Karen W Gripp
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.
American journal of medical genetics. Part A 2011;155A(3):486-507.
2011: Karen W Gripp; Ranita Kuryan; Rhonda E Schnur; Murtuza Kothawala; Lauren R Davey; Michael J Antunes; Kirk W Reichard; Adele Schneider; Bryan D Hall
Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy.
American journal of medical genetics. Part A 2011;155A(3):526-33.
2010: Karen W Gripp; Elizabeth Hopkins; Daniel Doyle; William B Dobyns
High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.
American journal of medical genetics. Part A 2010;152A(5):1161-8.
2009: Marni E Axelrad; David D Schwartz; Julie E Fehlis; Elizabeth Hopkins; Deborah L Stabley; Katia Sol-Church; Karen W Gripp
Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome.
American journal of medical genetics. Part A 2009;149A(12):2666-72.
2009: Katia Sol-Church; Deborah L Stabley; Laurie A Demmer; Abigail Agbulos; Angela E Lin; Leslie Smoot; Linda Nicholson; Karen W Gripp
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
American journal of medical genetics. Part A 2009;149A(3):315-21.
2009: Margaret P Adam; Louanne Hudgins; John C Carey; Bryan D Hall; Karlene Coleman; Karen W Gripp; Antonio Perez-Aytes; John M Graham
Preaxial hallucal polydactyly as a marker for diabetic embryopathy.
Birth defects research. Part A, Clinical and molecular teratology 2009;85(1):13-9.
2008: Katherine A Rauen; Erin Hefner; Kristin Carrillo; Jill Taylor; Laure Messier; Yoko Aoki; Karen W Gripp; Yoichi Matsubara; Virginia K Proud; Peter Hammond; Judith E Allanson; Marie-Ange Delrue; Marni E Axelrad; Angela E Lin; Daniel A Doyle; Bronwyn Kerr; John C Carey; Frank McCormick; Alcino J Silva; Mark W Kieran; Aleksander Hinek; Tan T Nguyen; Lisa Schoyer
Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007.
American journal of medical genetics. Part A 2008;146A(9):1205-17.
2008: Bronwyn Kerr; Judith Allanson; Marie Ange Delrue; Karen W Gripp; Didier Lacombe; Angela E Lin; Katherine A Rauen
The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.
American journal of medical genetics. Part A 2008;146A(9):1218-20.
2008: Angela E Lin; Katherine A Rauen; Karen W Gripp; John C Carey
Clarification of previously reported Costello syndrome patients.
American journal of medical genetics. Part A 2008;146(7):940-3.
2008: Karen W Gripp; A Micheil Innes; Marni E Axelrad; Tanya L Gillan; Jillian S Parboosingh; Christine Davies; Norma J Leonard; Monique Lapointe; Daniel Doyle; Sarah Catalano; Linda Nicholson; Deborah L Stabley; Katia Sol-Church
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
American journal of medical genetics. Part A 2008;146A(6):683-90.
2008: Karen W Gripp; Caitlyn Johnson; Charles I Scott; Linda Nicholson; Michael Bober; Merlin G Butler; Linda Shaw; Robert J Gorlin
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.
American journal of medical genetics. Part A 2008;146A(4):468-73.
2007: Marni E Axelrad; Linda Nicholson; Deborah L Stabley; Katia Sol-Church; Karen W Gripp
Longitudinal assessment of cognitive characteristics in Costello syndrome.
American journal of medical genetics. Part A 2007;143A(24):3185-93.
2007: Emilio Quezada; Karen W Gripp
Costello syndrome and related disorders.
Current opinion in pediatrics 2007;19(6):636-44.
2007: Shiang-Ju Kung; Karen W Gripp; Mark J Stephan; Mary P Fairchok; Stephen J McGeady
Selective IgM deficiency and 22q11.2 deletion syndrome.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2007;99(1):87-92.
2007: Mohamad Al-Rahawan; Deborah J Chute; Katia Sol-Church; Karen W Gripp; Deborah L Stabley; Nancy L McDaniel; William G Wilson; Peter E Waldron
Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.
American journal of medical genetics. Part A 2007;143A(13):1481-8.
2007: Karen W Gripp; Angela E Lin; Linda Nicholson; William Allen; Andrea Cramer; Kenneth L Jones; Wendy Kutz; Dawn Peck; Michael A Rebolledo; Patricia G Wheeler; William Wilson; Mohamad Al-Rahawan; Deborah L Stabley; Katia Sol-Church
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
American journal of medical genetics. Part A 2007;143A(13):1472-80.
2006: Karen W Gripp; Deborah L Stabley; Linda Nicholson; Jodi D Hoffman; Katia Sol-Church
Somatic mosaicism for an HRAS mutation causes Costello syndrome.
American journal of medical genetics. Part A 2006;140(20):2163-9.
2006: Katia Sol-Church; Deborah L Stabley; Linda Nicholson; Iris L Gonzalez; Karen W Gripp
Paternal bias in parental origin of HRAS mutations in Costello syndrome.
Human mutation 2006;27(8):736-41.
2006: Karen W Gripp; Angela E Lin; Deborah L Stabley; Linda Nicholson; Charles I Scott; Daniel Doyle; Yoko Aoki; Yoichi Matsubara; Elaine H Zackai; Pablo Lapunzina; Antonio Gonzalez-Meneses; Jennifer Holbrook; Cynthia A Agresta; Iris L Gonzalez; Katia Sol-Church
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
American journal of medical genetics. Part A 2006;140(1):1-7.
2005: Amanda Carré; Christopher Frantz; Rosanna Weksberg; Linda Nicholson; Lynn Ciarlo; Elaine H Zackai; Karen W Gripp
Wilms tumor in an 11-year-old with hemihyperplasia.
American journal of medical genetics. Part A 2005;139A(2):165-6.
2005: Karen W Gripp
Tumor predisposition in Costello syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics 2005;137C(1):72-7.
2005: Donna M McDonald-McGinn; Karen W Gripp; Richard E Kirschner; Melissa K Maisenbacher; Virginia Hustead; Galen M Schauer; Kim Keppler-Noreuil; Karen L Ciprero; Patrick S Pasquariello; Don LaRossa; Scott P Bartlett; Linton A Whitaker; Elaine H Zackai
Craniosynostosis: another feature of the 22q11.2 deletion syndrome.
American journal of medical genetics. Part A 2005;136A(4):358-62.
2005: Stephen W Scherer; Karen W Gripp; Jaume Lucena; Linda Nicholson; Jean-Paul Bonnefont; Luis A Pérez Jurado; Lucy Osborne
Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.
Human genetics 2005;117(4):383-8.
2005: Susan M White; John M Graham; B Kerr; Karen W Gripp; Rosanna Weksberg; Cheryl S Cytrynbaum; J L Reeder; F J Stewart; M Edwards; M Wilson; Agnes Bankier
The adult phenotype in Costello syndrome.
American journal of medical genetics. Part A 2005;136(2):128-35.
2005: Aleksander Hinek; Michael A Teitell; Lisa Schoyer; William Allen; Karen W Gripp; Robert Hamilton; Rosanna Weksberg; Michael Klüppel; Angela E Lin
Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy.
American journal of medical genetics. Part A 2005;133A(1):1-12.
2005: Linlea Armstrong; Azza Abd El Moneim; Kirk Aleck; David J Aughton; Clarisse Baumann; Stephen R Braddock; Gabriele Gillessen-Kaesbach; John M Graham; Theresa A Grebe; Karen W Gripp; Bryan D Hall; Raoul Hennekam; Alasdair Hunter; Kim Keppler-Noreuil; Didier Lacombe; Angela E Lin; Jeffrey E Ming; Nancy Mizue Kokitsu-Nakata; Sarah M Nikkel; Nicole Philip; Annick Raas-Rothschild; Annemarie Sommer; Alain Verloes; Claudia Walter; Dagmar Wieczorek; Marc S Williams; Elaine Zackai; Judith E Allanson
Further delineation of Kabuki syndrome in 48 well-defined new individuals.
American journal of medical genetics. Part A 2005;132A(3):265-72.
2004: G Mirzaa; N N Dodge; I Glass; C Day; Karen W Gripp; L Nicholson; V Straub; T Voit; W B Dobyns
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.
Neuropediatrics 2004;35(6):353-9.
2004: Marni E Axelrad; Rochelle Glidden; Linda Nicholson; Karen W Gripp
Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome.
American journal of medical genetics. Part A 2004;128A(4):396-400.
2004: Douglas R Stewart; Alina Huang; Francesca Faravelli; Britt-Marie Anderlid; Livija Medne; Karen L Ciprero; Maninder Kaur; Elena Rossi; Romano Tenconi; Magnus Nordenskjöld; Karen W Gripp; Linda Nicholson; Wendy S Meschino; Esther Capua; Oliver W J Quarrell; Jonathon Flint; Mira Irons; Philip F Giampietro; David B Schowalter; Christina Zaleski; Michela Malacarne; Elaine H Zackai; Nancy B Spinner; Ian D Krantz
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
American journal of medical genetics. Part A 2004;128A(4):340-51.
2004: Karen W Gripp; Hiroshi Kawame; David H Viskochil; Linda Nicholson
Elevated catecholamine metabolites in patients with Costello syndrome.
American journal of medical genetics. Part A 2004;128A(1):48-51.
2004: John B Mulliken; Karen W Gripp; Catherine Stolle; Daniela Steinberger; Ulrich Müller
Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).
Plastic and reconstructive surgery 2004;113(7):1899-909.
2004: Waleed Al-Herz; Stephen J McGeady; Karen W Gripp
22q11.2 deletion syndrome and selective IgM deficiency: an association of a common chromosomal abnormality with a rare immunodeficiency.
American journal of medical genetics. Part A 2004;127A(1):99-100.
2003: Karen W Gripp; Elaine H Zackai; M Michael Cohen
Clinical and molecular diagnosis should be consistent.
American journal of medical genetics. Part A 2003;121A(2):188-9.
2003: Karen W Gripp
Genetics of colorectal cancer.
The New England journal of medicine 2003;348(23):2361-2.
2002: Angela E Lin; Paul D Grossfeld; Robert Murray Hamilton; Leslie Smoot; Karen W Gripp; Virginia Proud; Rosanna Weksberg; Patricia Wheeler; Jonathan Picker; Mira Irons; Elaine Zackai; Bradley Marino; Charles I Scott; Linda Nicholson
Further delineation of cardiac abnormalities in Costello syndrome.
American journal of medical genetics 2002;111(2):115-29.
2002: Karen W Gripp; Charles I Scott; Linda Nicholson; Donna M McDonald-McGinn; J Daniel Ozeran; Marilyn C Jones; Angela E Lin; Elaine H Zackai
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.
American journal of medical genetics 2002;108(1):80-7.
2001: L B Cassileth; Scott P Bartlett; P M Glat; Karen W Gripp; M Muenke; E H Zackai; Linton A Whitaker
Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report.
Plastic and reconstructive surgery 2001;108(7):1849-54.
2001: Karen W Gripp; Donna M McDonald-McGinn; D La Rossa; D McGain; Noah Federman; Adrianna Vlachos; Bertil E Glader; Steven E McKenzie; Jeffrey Lipton; Elaine H Zackai
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia.
American journal of medical genetics 2001;101(3):268-74.
2001: Karen W Gripp; V Kasparcova; Donna M McDonald-McGinn; S Bhatt; Scott P Bartlett; A L Storm; T C Drumheller; Beverly S Emanuel; Elaine H Zackai; Catherine Stolle
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(2):102-8.
2000: Elaine H Zackai; Karen W Gripp; Catherine Stolle
Craniosynostosis: molecular testing-a necessity for counseling.
American journal of medical genetics 2000;92(2):157.
2000: Aleksander Hinek; Adam Smith; E M Cutiongco; John W Callahan; Karen W Gripp; Rosanna Weksberg
Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein.
American journal of human genetics 2000;66(3):859-72.
2000: Karen W Gripp; Charles I Scott; Linda Nicholson; T E Figueroa
Second case of bladder carcinoma in a patient with Costello syndrome.
American journal of medical genetics 2000;90(3):256-9.
2000: Karen W Gripp; Elaine H Zackai; Catherine Stolle
Mutations in the human TWIST gene.
Human mutation 2000;15(2):150-5.
1999: Karen W Gripp; Mason Barr; G Anadiotis; Donna M McDonald-McGinn; S A Zderic; Elaine H Zackai
Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother.
American journal of medical genetics 1999;82(5):363-7.
1999: Karen W Gripp; Catherine Stolle; L Celle; Donna M McDonald-McGinn; Linton A Whitaker; Elaine H Zackai
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.
American journal of medical genetics 1999;82(2):170-6.
1998: Karen W Gripp; Robert A Zimmerman; Zhiyue J Wang; Lucy B Rorke; Ann-Christine Duhaime; L Schut; PT Molloy; S H Tucker; Elaine H Zackai; M Muenke
Imaging studies in a unique familial dysmyelinating disorder.
AJNR. American journal of neuroradiology 1998;19(7):1368-72.
1998: Karen W Gripp; Catherine Stolle; Donna M McDonald-McGinn; Richard Markowitz; Scott P Bartlett; James A Katowitz; Maximilian Muenke; Elaine H Zackai
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
American journal of medical genetics 1998;78(4):356-60.
1998: Karen W Gripp; Donna M McDonald-McGinn; K Gaudenz; Linton A Whitaker; Scott P Bartlett; P M Glat; L B Cassileth; R Mayro; E H Zackai; Maximilian Muenke
Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.
The Journal of pediatrics 1998;132(4):714-6.
1997: Karen W Gripp; Charles I Scott; H E Hughes; R Wallerstein; Linda Nicholson; Lisa States; Lynn Bason; P Kaplan; S A Zderic; Ann-Christine Duhaime; F Miller; M R Magnusson; Elaine H Zackai
Lateral meningocele syndrome: three new patients and review of the literature.
American journal of medical genetics 1997;70(3):229-39.
1997: Karen W Gripp; Donna M McDonald-McGinn; Deborah A Driscoll; L A Reed; Beverly S Emanuel; Elaine H Zackai
Nasal dimple as part of the 22q11.2 deletion syndrome.
American journal of medical genetics 1997;69(3):290-2.
1997: Maximilian Muenke; Karen W Gripp; Donna M McDonald-McGinn; K Gaudenz; Linton A Whitaker; Scott P Bartlett; Richard Markowitz; N H Robin; NA Nwokoro; J J Mulvihill; H W Losken; J B Mulliken; A E Guttmacher; R S Wilroy; L A Clarke; Georgina Hollway; Lesley C Adès; Eric A Haan; John C Mulley; M M Cohen; GA Bellus; Clair A Francomano; DM Moloney; Steven A Wall; Andrew O M Wilkie
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
American journal of human genetics 1997;60(3):555-64.
1997: Karen W Gripp; D Donnai; C L Clericuzio; Donna M McDonald-McGinn; Marta Guttenberg; Elaine H Zackai
Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.
American journal of medical genetics 1997;68(4):441-4.
1997: Karen W Gripp; Charles I Scott; Linda Nicholson; G Magram; L E Grissom
Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda.
Skeletal radiology 1997;26(2):131-3.
1996: Karen W Gripp; Charles I Scott; B C Brockett; Linda Nicholson; W G Mackenzie
Extending the spectrum of distal arthrogryposis.
American journal of medical genetics 1996;65(4):286-90.
1996: Karen W Gripp; Charles I Scott; Linda Nicholson
Bilateral duplication of the primary ulnar ossification center in Ellis-van Creveld syndrome.
Clinical dysmorphology 1996;5(4):335-7.
1996: Karen W Gripp; Linda Nicholson; Charles I Scott
Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.
American journal of medical genetics 1996;61(4):382-6.
1995: Florencia Bullrich; Teresa Druck; P Kunapuli; J Gomez; Karen W Gripp; B Schlegelberger; J Lasota; M Aronson; Linda Cannizzaro; Kay Huebner
Chromosomal mapping of the genes GPRK5 and GPRK6 encoding G protein-coupled receptor kinases GRK5 and GRK6.
Cytogenetics and cell genetics 1995;70(3-4):250-4.
1989: Brigitte Schlegelberger; Karen W Gripp; Werner Grote
Common fragile sites in couples with recurrent spontaneous abortions.
American journal of medical genetics 1989;32(1):45-51.