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Marshall Summar

Research Profile

Chemicals & Drugs

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Brian Kirmse; Karen Kloke; Bryan Laplante; Inga Peter; Kimiyo Raymond; Marshall Summar; Michele Caggana; Charlotte V Hobbs; William Borkowsky
Abnormal newborn screens and acylcarnitines in HIV-exposed and ARV-exposed infants.
Candice D Fike; Mark R Kaplowitz; Lawrence S Prince; Marta Sidoryk-Wegrzynowicz; Marshall Summar; Yongmei Zhang; Michael Aschner; Gary Cunningham; Judy L Aschner
Prolonged hypoxia augments L-citrulline transport by system A in the newborn piglet pulmonary circulation.
Sabrina Mitchell; Deborah G Murdock; Dana C Crawford; Logan Dumitrescu; Jefferson P Lomenick; Teresa Welch-Burke; Marshall Summar
Peptide tyrosine tyrosine levels are increased in patients with urea cycle disorders.

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2013: Brian Kirmse; Karen Kloke; Bryan Laplante; Inga Peter; Kimiyo Raymond; Marshall Summar; Michele Caggana; Charlotte V Hobbs; William Borkowsky
Abnormal newborn screens and acylcarnitines in HIV-exposed and ARV-exposed infants.
The Pediatric infectious disease journal 2013;32(2):146-50.
2012: Candice D Fike; Mark R Kaplowitz; Lawrence S Prince; Marta Sidoryk-Wegrzynowicz; Marshall Summar; Yongmei Zhang; Michael Aschner; Gary Cunningham; Judy L Aschner
Prolonged hypoxia augments L-citrulline transport by system A in the newborn piglet pulmonary circulation.
Cardiovascular research 2012;95(3):375-84.
2012: Sabrina Mitchell; Deborah G Murdock; Dana C Crawford; Logan Dumitrescu; Jefferson P Lomenick; Teresa Welch-Burke; Marshall Summar
Peptide tyrosine tyrosine levels are increased in patients with urea cycle disorders.
Molecular genetics and metabolism 2012;106(1):39-42.
2012: Kimberly B Vera; English Flack; Michael Liske; Donald Moore; Marshall Summar
Significant Differences in Markers of Oxidant Injury between Idiopathic and Bronchopulmonary-Dysplasia-Associated Pulmonary Hypertension in Children.
Pulmonary medicine 2012;2012():301475.
2011: Ayelet Erez; Harsha K Garg; David G Harrison; Judy L Aschner; Terry K Bertin; Jennifer O Black; Nathan S Bryan; Philippe Campeau; Yuqing Chen; Li Li; Juan C Marini; Asad Mian; William E Mitch; Sandesh C S Nagamani; William E O'Brien; Muralidhar H Premkumar; Anilkumar K Reddy; Oleg A Shchelochkov; Marshall Summar; Yaoping Tang; Heng Zeng; Brendan Lee
Requirement of argininosuccinate lyase for systemic nitric oxide production.
Nature medicine 2011;17(12):1619-26.
2011: Johannes Häberle; Oleg A Shchelochkov; Jing Wang; Panagiotis Katsonis; Lynn Hall; Sara Reiss; Angela Eeds; Alecia Willis; Meeta Yadav; Samantha Summar; Olivier Lichtarge; Vicente Rubio; Lee-Jun Wong; Marshall Summar
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.
Human mutation 2011;32(6):579-89.
2011: Thomas M Morgan; Cameron Schlegel; Robert Sparks; Marshall Summar; Teresa Welch-Burke; Yuwei Zhu; Kathryn M Edwards
Vaccines are not associated with metabolic events in children with urea cycle disorders.
Pediatrics 2011;127(5):e1147-53.
2011: Nicola P Klein; Laurie Aukes; Janelle Lee; Bruce Fireman; Stuart K Shapira; Barbara Slade; Roger Baxter; Marshall Summar
Evaluation of immunization rates and safety among children with inborn errors of metabolism.
Pediatrics 2011;127(5):e1139-46.
2011: Karen L Gamble; Alison A Motsinger-Reif; Akiko Hida; Hugo M Borsetti; Stein V Servick; Christopher M Ciarleglio; Sam Robbins; Jennifer Hicks; Krista Carver; Nalo Hamilton; Nancy Wells; Marshall Summar; Douglas G McMahon; Carl Hirschie Johnson
Shift work in nurses: contribution of phenotypes and genotypes to adaptation.
PloS one 2011;6(4):e18395.
2010: Arul Vadivel; Heng Zeng; Judy L Aschner; Farah Eaton; Jordan Magarik; Gloria J Rey-Parra; Marshall Summar; Bernard Thébaud
L-citrulline attenuates arrested alveolar growth and pulmonary hypertension in oxygen-induced lung injury in newborn rats.
Pediatric research 2010;68(6):519-25.
2010: Truc M Le; Alecia S Willis; Frederick E Barr; Gary R Cunningham; Jeffrey A Canter; Sarah E Owens; Rachel K Apple; George Ayodo; David Reich; Marshall Summar
An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitro.
Molecular genetics and metabolism 2010;101(1):55-61.
2010: Lorraine B Ware; Marshall Summar
Understanding the role of NOS-3 in ventilator-induced lung injury: don't take NO for an answer.
American journal of physiology. Lung cellular and molecular physiology 2010;299(2):L147-9.
2010: Jennifer Seminara; Mendel Tuchman; Lauren Krivitzky; Jeffrey Krischer; Hye-Seung Lee; Cynthia Lemons; Matthias Baumgartner; Stephen Cederbaum; George A Diaz; Annette Feigenbaum; Renata C Gallagher; Cary O Harding; Douglas S Kerr; Brendan Lanpher; Brendan Lee; Uta Lichter-Konecki; Shawn E McCandless; J Lawrence Merritt; Mary Lou Oster-Granite; Margretta R Seashore; Tamar Stricker; Marshall Summar; Susan Waisbren; Marc Yudkoff; Mark L Batshaw
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.
Molecular genetics and metabolism 2010;100 Suppl 1():S97-105.
2009: Jefferson P Lomenick; Maria S Melguizo; Sabrina L Mitchell; Marshall Summar; James W Anderson
Effects of meals high in carbohydrate, protein, and fat on ghrelin and peptide YY secretion in prepubertal children.
The Journal of clinical endocrinology and metabolism 2009;94(11):4463-71.
2009: Madhumita Ananthakrishnan; Frederick E Barr; Marshall Summar; Heidi A Smith; Mark R Kaplowitz; Gary Cunningham; Jordan Magarik; Yongmei Zhang; Candice D Fike
L-Citrulline ameliorates chronic hypoxia-induced pulmonary hypertension in newborn piglets.
American journal of physiology. Lung cellular and molecular physiology 2009;297(3):L506-11.
2009: Brian M Kemp; Tiffiny A Tung; Marshall Summar
Genetic continuity after the collapse of the Wari empire: mitochondrial DNA profiles from Wari and post-Wari populations in the ancient Andes.
American journal of physical anthropology 2009;140(1):80-91.
2009: Paul E Moore; Kelli K Ryckman; scott williams; Neal Patel; Marshall Summar; James R Sheller
Genetic variants of GSNOR and ADRB2 influence response to albuterol in African-American children with severe asthma.
Pediatric pulmonology 2009;44(7):649-54.
2009: Zhaobao Yin; Jan Albrecht; Tore Syversen; Haiyan Jiang; Marshall Summar; Joao B T Rocha; Marcelo Farina; Michael Aschner
Comparison of alterations in amino acids content in cultured astrocytes or neurons exposed to methylmercury separately or in co-culture.
Neurochemistry international 2009;55(1-3):136-42.
2009: Meaghan Anne Neill; Judy Aschner; Frederick Barr; Marshall Summar
Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues.
Molecular genetics and metabolism 2009;97(2):121-7.
2009: John A Morris; Cedric Francois; Paul K Olson; Bryan Cotton; Marshall Summar; Judith M Jenkins; Patrick R Norris; Jason Moore; Anna E Williams; Brent S McNew; Jeffrey A Canter
Genetic variation in complement component 2 of the classical complement pathway is associated with increased mortality and infection: a study of 627 patients with trauma.
The Journal of trauma 2009;66(5):1265-70; discussion 1270-2.
2009: Sabrina Mitchell; Clint Ellingson; Thomas Coyne; Lynn Hall; Meaghan Neill; Natalie Christian; Catherine Higham; Steven F Dobrowolski; Mendel Tuchman; Marshall Summar
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.
Human mutation 2009;30(1):56-60.
2008: Tzipora C Falik-Zaccai; Nechama Kfir; Pnina Frenkel; Cindy Cohen; Mary Tanus; Hanna Mandel; Shihab Shihab; Siman Morkos; Salameh Aaref; Marshall Summar; Morad Khayat
Population screening in a Druze community: the challenge and the reward.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(12):903-9.
2008: Marshall Summar; Dries Dobbelaere; Saul Brusilow; Brendan Lee
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.
Acta paediatrica (Oslo, Norway : 1992) 2008;97(10):1420-5.
2008: Bruce A Barshop; Marshall Summar
Attitudes regarding vaccination among practitioners of clinical biochemical genetics.
Molecular genetics and metabolism 2008;95(1-2):1-2.
2008: Christopher M Ciarleglio; Kelli K Ryckman; Stein V Servick; Akiko Hida; Sam Robbins; Nancy Wells; Jennifer Hicks; Sydney A Larson; Joshua P Wiedermann; Krista Carver; Nalo Hamilton; Kenneth K Kidd; Judith R Kidd; Jeffrey R Smith; Jonathan Friedlaender; Douglas G McMahon; scott williams; Marshall Summar; Carl Hirschie Johnson
Genetic differences in human circadian clock genes among worldwide populations.
Journal of biological rhythms 2008;23(4):330-40.
2008: Mendel Tuchman; Brendan Lee; Uta Lichter-Konecki; Marshall Summar; Marc Yudkoff; Stephen D Cederbaum; Douglas S Kerr; George A Diaz; Margaretta R Seashore; Hye-Seung Lee; Robert J McCarter; Jeffrey P Krischer; Mark L Batshaw
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
Molecular genetics and metabolism 2008;94(4):397-402.
2008: Richard G H Cotton; A D Auerbach; Jacques Beckmann; Olga O Blumenfeld; A J Brookes; A F Brown; P Carrera; D W Cox; Bruce Gottlieb; M S Greenblatt; P Hilbert; H Lehvaslaiho; P Liang; S Marsh; D W Nebert; S Povey; S Rossetti; Charles R Scriver; Marshall Summar; D R Tolan; I C Verma; Mauno Vihinen; J T den Dunnen
Recommendations for locus-specific databases and their curation.
Human mutation 2008;29(1):2-5.
2007: Andrea Gropman; Marshall Summar; J V Leonard
Neurological implications of urea cycle disorders.
Journal of inherited metabolic disease 2007;30(6):865-79.
2007: Frederick E Barr; Rommel G Tirona; Mary B Taylor; Geraldine Rice; Judith Arnold; Gary Cunningham; Heidi A B Smith; Adam Campbell; Jeffrey A Canter; Karla G Christian; Davis C Drinkwater; Frank G Scholl; Ann L Kavanaugh-McHugh; Marshall Summar
Pharmacokinetics and safety of intravenously administered citrulline in children undergoing congenital heart surgery: potential therapy for postoperative pulmonary hypertension.
The Journal of thoracic and cardiovascular surgery 2007;134(2):319-26.
2007: Jeffrey A Canter; Marshall Summar; Heidi B Smith; Geraldine D Rice; Lynn D Hall; Marylyn Ritchie; Alison A Motsinger; Karla G Christian; Davis C Drinkwater; Frank G Scholl; Karrie L Dyer; Ann L Kavanaugh-McHugh; Frederick E Barr
Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study.
Mitochondrion 2007;7(3):204-10.
2007: Angela Eeds; Douglas P Mortlock; R Wade-Martins; Marshall Summar
Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs.
American journal of human genetics 2007;80(4):740-50.
2006: Paul E Moore; Gary Cunningham; Mark M Calder; Anthony D DeMatteo; Mark Peeples; Marshall Summar; R Stokes Peebles
Respiratory syncytial virus infection reduces beta2-adrenergic responses in human airway smooth muscle.
American journal of respiratory cell and molecular biology 2006;35(5):559-64.
2006: Angela Eeds; Lynn D Hall; Meeta Yadav; Alecia Willis; Samantha R Summar; A Putnam; Frederick Barr; Marshall Summar
The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.
Molecular genetics and metabolism 2006;89(1-2):80-6.
2006: Heidi A B Smith; Jeffrey A Canter; Karla G Christian; Davis C Drinkwater; Frank G Scholl; Brian W Christman; Geraldine D Rice; Frederick E Barr; Marshall Summar
Nitric oxide precursors and congenital heart surgery: a randomized controlled trial of oral citrulline.
The Journal of thoracic and cardiovascular surgery 2006;132(1):58-65.
2005: Wendy Smith; Priya S Kishnani; Brendan Lee; Rani H Singh; William J Rhead; Lisa Sniderman King; Michael Smith; Marshall Summar
Urea cycle disorders: clinical presentation outside the newborn period.
Critical care clinics 2005;21(4 Suppl):S9-17.
2005: Lisa Sniderman King; Rani H Singh; William J Rhead; Wendy Smith; Brendan Lee; Marshall Summar
Genetic counseling issues in urea cycle disorders.
Critical care clinics 2005;21(4 Suppl):S37-44.
2005: Rani H Singh; William J Rhead; Wendy Smith; Brendan Lee; Lisa Sniderman King; Marshall Summar
Nutritional management of urea cycle disorders.
Critical care clinics 2005;21(4 Suppl):S27-35.
2005: Brendan Lee; Rani H Singh; William J Rhead; Lisa Sniderman King; Wendy Smith; Marshall Summar
Considerations in the difficult-to-manage urea cycle disorder patient.
Critical care clinics 2005;21(4 Suppl):S19-25.
2005: Marshall Summar; Frederick Barr; Sheila Dawling; Wendy Smith; Brendan Lee; Rani H Singh; William J Rhead; Lisa Sniderman King; Brian W Christman
Unmasked adult-onset urea cycle disorders in the critical care setting.
Critical care clinics 2005;21(4 Suppl):S1-8.
2005: Todd Hulgan; David W Haas; Jonathan L Haines; Marylyn Ritchie; Gregory Robbins; Robert W Shafer; David B Clifford; Asha R Kallianpur; Marshall Summar; Jeffrey A Canter
Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study.
AIDS (London, England) 2005;19(13):1341-9.
2005: Asha R Kallianpur; Lynn D Hall; Meeta Yadav; Daniel W Byrne; Theodore Speroff; Robert S Dittus; Jonathan L Haines; Brian W Christman; Marshall Summar
The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation.
Bone marrow transplantation 2005;35(12):1155-64.
2005: Ljubica Caldovic; Hiroki Morizono; Maria Panglao; Giselle Y Lopez; Dashuang Shi; Marshall Summar; Mendel Tuchman
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.
Human mutation 2005;25(3):293-8.
2005: Jeffrey A Canter; Alex Eshaghian; Joshua P Fessel; Marshall Summar; L Jackson Roberts; Jason D Morrow; James E Sligh; Jonathan L Haines
Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutation.
Free radical biology & medicine 2005;38(5):678-83.
2005: Jason Moore; Erik M Boczko; Marshall Summar
Connecting the dots between genes, biochemistry, and disease susceptibility: systems biology modeling in human genetics.
Molecular genetics and metabolism 2005;84(2):104-11.
2004: M L Loscalzo; R L Galczynski; Ada Hamosh; Marshall Summar; Jeffrey M Chinsky; George H Thomas
Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency).
American journal of medical genetics. Part A 2004;128A(3):311-5.
2004: Marshall Summar; Lynn Hall; Brian W Christman; Frederick Barr; Heidi Smith; Asha R Kallianpur; Nancy Brown; Meeta Yadav; Alecia Willis; Angela Eeds; Emma Cermak; Samantha R Summar; Ann Wilson; Molly Arvin; Allison Putnam; Melissa Wills; Gary Cunningham
Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I.
Molecular genetics and metabolism 2004;81 Suppl 1():S12-9.
2004: Asha R Kallianpur; Lynn D Hall; Meeta Yadav; Brian W Christman; Robert S Dittus; Jonathan L Haines; Fritz F Parl; Marshall Summar
Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancer.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2004;13(2):205-12.
2004: Marshall Summar; James V Gainer; Mias Pretorius; Hector A Malave; Stephanie Harris; Lynn D Hall; Alec D Weisberg; Douglas E Vaughan; Brian W Christman; Nancy Brown
Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function.
Hypertension 2004;43(2):186-91.
2004: scott williams; Marylyn Ritchie; John A Phillips; Elliot Dawson; Melissa Prince; Elvira Dzhura; Alecia Willis; Amma Semenya; Marshall Summar; Bill C White; Jonathan H Addy; John Kpodonu; Lee-Jun C Wong; Robin A Felder; Pedro Jose; Jason Moore
Multilocus analysis of hypertension: a hierarchical approach.
Human heredity 2004;57(1):28-38.
2003: Marshall Summar; Lynn D Hall; Angela Eeds; Holli B Hutcheson; A N Kuo; A S Willis; V Rubio; M K Arvin; J P Schofield; Elliott P Dawson
Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene.
Gene 2003;311():51-7.
2003: Frederick E Barr; Heidi Beverley; Kristin VanHook; Emma Cermak; Karla Christian; Davis C Drinkwater; Karrie Dyer; Noel T Raggio; Jason Moore; Brian W Christman; Marshall Summar
Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery.
The Journal of pediatrics 2003;142(1):26-30.
2003: Alecia S Willis; Michael L Freeman; Samantha R Summar; Frederick E Barr; scott williams; Elliott Dawson; Marshall Summar
Ethnic diversity in a critical gene responsible for glutathione synthesis.
Free radical biology & medicine 2003;34(1):72-6.
2002: Ute Spiekerkoetter; Angela Eeds; Zou Yue; Jonathan L Haines; Arnold W Strauss; Marshall Summar
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations.
Human mutation 2002;20(6):447-51.
2002: SEKHAR KONJETI; Douglas R Spitz; Stephanie Harris; Trung T Nguyen; Michael J (Michael) Meredith; Jeffrey T Holt; David Gius; Lawrence J Marnett; Marshall Summar; Michael L Freeman; David Guis
Redox-sensitive interaction between KIAA0132 and Nrf2 mediates indomethacin-induced expression of gamma-glutamylcysteine synthetase.
Free radical biology & medicine 2002;32(7):650-62.
2001: D L Pearson; Sheila Dawling; William F Walsh; Jonathan L Haines; Brian W Christman; A Bazyk; N Scott; Marshall Summar
Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.
The New England journal of medicine 2001;344(24):1832-8.
2001: Marshall Summar
Current strategies for the management of neonatal urea cycle disorders.
The Journal of pediatrics 2001;138(1 Suppl):S30-9.
2001: Marshall Summar; M Tuchman
Proceedings of a consensus conference for the management of patients with urea cycle disorders.
The Journal of pediatrics 2001;138(1 Suppl):S6-10.
2000: Holly A Ishmael; LM Pasztor; P G Rothberg; Merlin G Butler; J Pfotenhauer; V Hannig; Marshall Summar
Diagnostic dilemma caused by overlapping features of Prader-Willi syndrome and trisomy 18 during infancy.
The Journal of pediatrics 2000;136(1):135-6.
1998: M J Dasouki; Joy D Cogan; Marshall Summar; W Neblitt; Tatiana Foroud; D Koller; John A Phillips
Heterogeneity in hereditary pancreatitis.
American journal of medical genetics 1998;77(1):47-53.
1998: Marshall Summar
Molecular genetic research into carbamoyl-phosphate synthase I: molecular defects and linkage markers.
Journal of inherited metabolic disease 1998;21 Suppl 1():30-9.
1997: JG Klekamp; Kasia Jarzecka; Richard L Hoover; Marshall Summar; N Redmond; EA Perkett
Vascular endothelial growth factor is expressed in ovine pulmonary vascular smooth muscle cells in vitro and regulated by hypoxia and dexamethasone.
Pediatric research 1997;42(6):744-9.
1997: Rosalind A Coleman; J L Van Hove; C R Morris; Jon Rhoads; Marshall Summar
Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)?
American journal of medical genetics 1997;72(3):335-8.
1997: SEKHAR KONJETI; M Long; J Long; ZQ Xu; Marshall Summar; Michael L Freeman
Alteration of transcriptional and post-transcriptional expression of gamma-glutamylcysteine synthetase by diethyl maleate.
Radiation research 1997;147(5):592-7.
1996: Salmo Raskin; Joy D Cogan; Marshall Summar; A Moreno; MR Krishnamani; John A Phillips
Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism.
Human genetics 1996;98(6):703-5.
1996: David R Repaske; Marshall Summar; MR Krishnamani; E K Gültekin; M C Arriazu; M E Roubicek; M Blanco; G B Isaac; John A Phillips
Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus.
The Journal of clinical endocrinology and metabolism 1996;81(6):2328-34.
1996: Marshall Summar; J Pietsch; J Deshpande; G Schulman
Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia.
The Journal of pediatrics 1996;128(3):379-82.
1996: Tracy E Hunley; B A Julian; John A Phillips; Marshall Summar; H Yoshida; R G Horn; Nancy Brown; A Fogo; Iekuni Ichikawa; Valentina Kon
Angiotensin converting enzyme gene polymorphism: potential silencer motif and impact on progression in IgA nephropathy.
Kidney international 1996;49(2):571-7.
1996: E Sierra-Rivera; M Dasouki; Marshall Summar; MR Krishnamani; Michael J (Michael) Meredith; P N Rao; John A Phillips; Michael L Freeman
Assignment of the human gene (GLCLR) that encodes the regulatory subunit of gamma-glutamylcysteine synthetase to chromosome 1p21.
Cytogenetics and cell genetics 1996;72(2-3):252-4.
1995: Johan L K Van Hove; Priya S Kishnani; Joseph Muenzer; R J Wenstrup; Marshall Summar; M R Brummond; Ave M Lachiewicz; David S Millington; SG Kahler
Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.
American journal of medical genetics 1995;59(4):444-53.
1995: F K Ghishan; Susan M Knobel; Marshall Summar
Molecular cloning, sequencing, chromosomal localization, and tissue distribution of the human Na+/H+ exchanger (SLC9A2).
Genomics 1995;30(1):25-30.
1995: E Sierra-Rivera; Marshall Summar; M Dasouki; MR Krishnamani; John A Phillips; Michael L Freeman
Assignment of the gene (GLCLC) that encodes the heavy subunit of gamma-glutamylcysteine synthetase to human chromosome 6.
Cytogenetics and cell genetics 1995;70(3-4):278-9.
1995: Marshall Summar; M J Dasouki; P J Schofield; MR Krishnamani; Cindy L Vnencak-Jones; M Tuchman; J Mao; John A Phillips
Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35.
Cytogenetics and cell genetics 1995;71(3):266-7.
1994: A F Lewanda; Eric Green; J Weissenbach; H Jerald; E Taylor; Marshall Summar; J A Phillips; M Cohen; M Feingold; W Mouradian
Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient.
American journal of human genetics 1994;55(6):1195-201.
1994: E Sierra-Rivera; Michael J (Michael) Meredith; Marshall Summar; M D Smith; G J Voorhees; C M Stoffel; Michael L Freeman
Genes regulating glutathione concentrations in X-ray-transformed rat embryo fibroblasts: changes in gamma-glutamylcysteine synthetase and gamma-glutamyltranspeptidase expression.
Carcinogenesis 1994;15(7):1301-7.
1994: George E Tiller; P A Polumbo; Marshall Summar
Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism.
Genomics 1994;20(2):275-7.
1994: Luis A Pérez Jurado; John A Phillips; Marshall Summar; J Mao; J L Weber; F V Schaefer; J Hazan; Jesús Argente
Genetic mapping of the human growth hormone-releasing factor gene (GHRF) using two intragenic polymorphisms detected by PCR amplification.
Genomics 1994;20(1):132-4.
1992: Marshall Summar
The use of linkage analysis and the Centre d'Etude Polymorphisme Humain (CEPH) panel of DNA in the study of the arginine vasopressin, oxytocin and prodynorphin gene loci.
Progress in brain research 1992;93():309-17.
1992: Mendel Tuchman; S M Mauer; R A Holzknecht; Marshall Summar; Cindy L Vnencak-Jones
Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency.
Journal of inherited metabolic disease 1992;15(2):269-77.
1991: G S Henderson; J T Conary; Marshall Summar; Thomas L McCurley; Daniel G Colley
In vivo molecular analysis of lymphokines involved in the murine immune response during Schistosoma mansoni infection. I. IL-4 mRNA, not IL-2 mRNA, is abundant in the granulomatous livers, mesenteric lymph nodes, and spleens of infected mice.
Journal of immunology (Baltimore, Md. : 1950) 1991;147(3):992-7.
1991: S E Perry; Marshall Summar; John A Phillips; David Robertson
Linkage analysis of the human dopamine beta-hydroxylase gene.
Genomics 1991;10(2):493-5.
1990: Marshall Summar; John A Phillips; J Battey; C M Castiglione; K K Kidd; K J Maness; B Weiffenbach; T C Gravius
Linkage relationships of human arginine vasopressin-neurophysin-II and oxytocin-neurophysin-I to prodynorphin and other loci on chromosome 20.
Molecular endocrinology (Baltimore, Md.) 1990;4(6):947-50.
1989: Marshall Summar; John A Phillips; MR Krishnamani; JEFFREY KEEFER; J Trofatter; R C Schwartz; Petros Tsipouras; H Willard; A Ullrich
Protein kinase C: a new linkage marker for growth hormone and for COL1A1.
Genomics 1989;5(1):163-5.