 Pedigree
"Pedigree" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
| Descriptor ID |
D010375
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| MeSH Number(s) |
E05.393.673
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| Concept/Terms |
Identity, Genetic- Identity, Genetic
- Genetic Identities
- Identities, Genetic
- Genetic Identity
Family Tree- Family Tree
- Family Trees
- Tree, Family
- Trees, Family
- Genealogical Tree
- Genealogical Trees
- Tree, Genealogical
- Trees, Genealogical
- Genealogic Tree
- Genealogic Trees
- Tree, Genealogic
- Trees, Genealogic
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Below are MeSH descriptors whose meaning is more general than "Pedigree".
Below are MeSH descriptors whose meaning is more specific than "Pedigree".
This graph shows the total number of publications written about "Pedigree" by people in UAMS Profiles by year, and whether "Pedigree" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2024 | 0 | 2 | 2 | | 2023 | 0 | 1 | 1 | | 2022 | 0 | 3 | 3 | | 2021 | 0 | 2 | 2 | | 2020 | 0 | 4 | 4 | | 2019 | 0 | 5 | 5 | | 2018 | 0 | 3 | 3 | | 2017 | 0 | 3 | 3 | | 2016 | 0 | 1 | 1 | | 2015 | 1 | 6 | 7 | | 2014 | 2 | 1 | 3 | | 2013 | 0 | 2 | 2 | | 2012 | 0 | 1 | 1 | | 2011 | 0 | 3 | 3 | | 2010 | 0 | 5 | 5 | | 2009 | 1 | 5 | 6 | | 2008 | 0 | 3 | 3 | | 2007 | 1 | 5 | 6 | | 2006 | 0 | 5 | 5 | | 2005 | 0 | 4 | 4 | | 2004 | 0 | 3 | 3 | | 2003 | 0 | 2 | 2 | | 2002 | 0 | 4 | 4 | | 2001 | 0 | 1 | 1 | | 2000 | 0 | 2 | 2 | | 1998 | 0 | 1 | 1 | | 1997 | 0 | 1 | 1 | | 1996 | 0 | 3 | 3 | | 1995 | 0 | 2 | 2 | | 1992 | 0 | 2 | 2 | | 1990 | 0 | 1 | 1 | | 1989 | 0 | 3 | 3 |
To return to the timeline, click here.
Below are the most recent publications written about "Pedigree" by people in Profiles over the past ten years.
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Benkirane M, Bonhomme M, Morsy H, Safgren SL, Marelli C, Chaussenot A, Smedley D, Cipriani V, de Sainte-Agathe JM, Ding C, Larrieu L, Vestito L, Margot H, Lesca G, Ramond F, Castrioto A, Baux D, Verheijen J, Sansa E, Giunti P, Haetty A, Bergougnoux A, Pointaux M, Ardouin O, Van Goethem C, Vincent MC, Hadjivassiliou M, Coss?e M, Rouaud T, Bartsch O, Freeman WD, Wierenga KJ, Klee EW, Vandrovcova J, Houlden H, Debant A, Koenig M. De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity. Brain. 2024 Nov 04; 147(11):3681-3689.
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Rai V, Singh M, Holthoff JH. New Mutation Associated with Polycystic Kidney Disease Type I: A Case Report. Genes (Basel). 2024 Sep 27; 15(10).
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Georgiou M, Robson AG, Uwaydat SH, Ji MH, Shakarchi AF, Pontikos N, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M. RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers. Am J Ophthalmol. 2024 05; 261:112-120.
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ElSheikh RH, Aravindhan A, Boysen S, Veerapandiyan A. Infantile-Onset Complex Hereditary Spastic Paraplegia Due to a Novel Mutation in SPAST Gene. Pediatr Neurol. 2022 09; 134:71.
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Alge JL, Bekheirnia N, Willcockson AR, Qin X, Scherer SE, Braun MC, Bekheirnia MR. Variants in genes coding for collagen type IV a-chains are frequent causes of persistent, isolated hematuria during childhood. Pediatr Nephrol. 2023 03; 38(3):687-695.
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Boysen S, Elumalai V, ElSheikh RH, Aravindhan A, Veerapandiyan A. Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene. J Clin Neurosci. 2022 06; 100:212-213.
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Lepard Tassin T, Seraji K, Simonson M, Chou C. Exploring genetic counselors' use of pedigree symbols to represent assisted reproductive technology. J Genet Couns. 2021 12; 30(6):1773-1778.
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Aluri J, Bach A, Kaviany S, Chiquetto Paracatu L, Kitcharoensakkul M, Walkiewicz MA, Putnam CD, Shinawi M, Saucier N, Rizzi EM, Harmon MT, Keppel MP, Ritter M, Similuk M, Kulm E, Joyce M, de Jesus AA, Goldbach-Mansky R, Lee YS, Cella M, Kendall PL, Dinauer MC, Bednarski JJ, Bemrich-Stolz C, Canna SW, Abraham SM, Demczko MM, Powell J, Jones SM, Scurlock AM, De Ravin SS, Bleesing JJ, Connelly JA, Rao VK, Schuettpelz LG, Cooper MA. Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function. Blood. 2021 05 06; 137(18):2450-2462.
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Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. 2021 01 20; 109(2):241-256.e9.
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Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism. Am J Hum Genet. 2020 11 05; 107(5):963-976.
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Stremenova Spegarova J, Lawless D, Mohamad SMB, Engelhardt KR, Doody G, Shrimpton J, Rensing-Ehl A, Ehl S, Rieux-Laucat F, Cargo C, Griffin H, Mikulasova A, Acres M, Morgan NV, Poulter JA, Sheridan EG, Chetcuti P, O'Riordan S, Anwar R, Carter CR, Przyborski S, Windebank K, Cant AJ, Lako M, Bacon CM, Savic S, Hambleton S. Germline TET2 loss of function causes childhood immunodeficiency and lymphoma. Blood. 2020 08 27; 136(9):1055-1066.
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Wenger TL, Bly RA, Wu N, Albert CM, Park J, Shieh J, Chenbhanich J, Heike CL, Adam MP, Chang I, Sun A, Miller DE, Beck AE, Gupta D, Boos MD, Zackai EH, Everman D, Ganapathi S, Wilson M, Christodoulou J, Zarate YA, Curry C, Li D, Guimier A, Amiel J, Hakonarson H, Webster R, Bhoj EJ, Perkins JA, Dahl JP, Dobyns WB. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. Am J Med Genet A. 2020 07; 182(7):1576-1591.
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Lyu C, Webber DM, MacLeod SL, Hobbs CA, Li M. Gene-by-gene interactions associated with the risk of conotruncal heart defects. Mol Genet Genomic Med. 2020 01; 8(1):e1010.
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Lewis HS, Willis E, Veerapandiyan A. Charcot-Marie-Tooth Disease Type 4J and Multiple Sclerosis. J Clin Neuromuscul Dis. 2019 Dec; 21(2):117-118.
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Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, Wierenga KJ, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen HJ, Campeau PM. Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. Am J Hum Genet. 2019 12 05; 105(6):1237-1253.
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Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 01; 41(1):150-168.
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Mohassel P, Liewluck T, Hu Y, Ezzo D, Ogata T, Saade D, Neuhaus S, Bolduc V, Zou Y, Donkervoort S, Medne L, Sumner CJ, Dyck PJB, Wierenga KJ, Tennekoon G, Finkel RS, Chen J, Winder TL, Staff NP, Foley AR, Koch M, B?nnemann CG. Dominant collagen XII mutations cause a distal myopathy. Ann Clin Transl Neurol. 2019 10; 6(10):1980-1988.
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Goto A, Ishii A, Shibata M, Ihara Y, Cooper EC, Hirose S. Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy. Epilepsia. 2019 09; 60(9):1870-1880.
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Gregory A, Lotia M, Jeong SY, Fox R, Zhen D, Sanford L, Hamada J, Jahic A, Beetz C, Freed A, Kurian MA, Cullup T, van der Weijden MCM, Nguyen V, Setthavongsack N, Garcia D, Krajbich V, Pham T, Woltjer R, George BP, Minks KQ, Paciorkowski AR, Hogarth P, Jankovic J, Hayflick SJ. Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). Mol Genet Genomic Med. 2019 07; 7(7):e00736.
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Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. Ann Neurol. 2018 11; 84(5):766-780.
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Szafranski P, Kosmider E, Liu Q, Karolak JA, Currie L, Parkash S, Kahler SG, Roeder E, Littlejohn RO, DeNapoli TS, Shardonofsky FR, Henderson C, Powers G, Poisson V, B?rub? D, Oligny L, Michaud JL, Janssens S, De Coen K, Van Dorpe J, Dheedene A, Harting MT, Weaver MD, Khan AM, Tatevian N, Wambach J, Gibbs KA, Popek E, Gambin A, Stankiewicz P. LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV. Hum Mutat. 2018 12; 39(12):1916-1925.
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Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Di?z NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Mui?o-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Arterial tortuosity syndrome: 40 new families and literature review. Genet Med. 2018 10; 20(10):1236-1245.
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Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Hum Mol Genet. 2017 12 15; 26(24):4937-4950.
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Hardin JS, Schaefer GB, Sallam AB, Williams MK, Uwaydat S. A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance. Ophthalmic Genet. 2017 12; 38(6):570-574.
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Song E, Luo N, Alvarado JA, Lim M, Walnuss C, Neely D, Spandau D, Ghaffarieh A, Sun Y. Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis. Sci Rep. 2017 05 04; 7(1):1442.
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Dev Borman A, Rachitskaya A, Suzani M, Sisk RA, Ahmed ZM, Holder GE, Cipriani V, Arno G, Webster AR, Hufnagel RB, Berrocal A, Moore AT. Benign Yellow Dot Maculopathy: A New Macular Phenotype. Ophthalmology. 2017 07; 124(7):1004-1013.
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Osborn DPS, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC. Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sj?gren Syndrome and Dystroglycanopathy. Am J Hum Genet. 2017 Mar 02; 100(3):537-545.
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Tomita-Mitchell A, Stamm KD, Mahnke DK, Kim MS, Hidestrand PM, Liang HL, Goetsch MA, Hidestrand M, Simpson P, Pelech AN, Tweddell JS, Benson DW, Lough JW, Mitchell ME. Impact of MYH6 variants in hypoplastic left heart syndrome. Physiol Genomics. 2016 12 01; 48(12):912-921.
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Tas E, Sebastian J, Madan-Khetarpal S, Sweet P, Yatsenko AN, Pollock N, Rajkovic A, Schneck FX, Yatsenko SA, Witchel SF. Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability. Am J Med Genet A. 2017 Jan; 173(1):221-224.
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Zarate YA, Jones JR, Jones MA, Millan F, Juusola J, Vertino-Bell A, Schaefer GB, Kruer MC. Lessons from a pair of siblings with BPAN. Eur J Hum Genet. 2016 07; 24(7):1080-3.
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Hagelstrom RT, Ford J, Reiser GM, Nelson M, Pickering DL, Althof PA, Sanger WG, Coccia PF. Breast Cancer and Non-Hodgkin Lymphoma in a Young Male with Cowden Syndrome. Pediatr Blood Cancer. 2016 Mar; 63(3):544-6.
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May M, Hwang KS, Miles J, Williams C, Niranjan T, Kahler SG, Chiurazzi P, Steindl K, Van Der Spek PJ, Swagemakers S, Mueller J, Stefl S, Alexov E, Ryu JI, Choi JH, Kim HT, Tarpey P, Neri G, Holloway L, Skinner C, Stevenson RE, Dorsky RI, Wang T, Schwartz CE, Kim CH. ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. Hum Mol Genet. 2015 Sep 01; 24(17):4848-61.
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Shiver M, Hughes M, Naylor M, McLarney B, Stolle C, Shalin S, Gao L. A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. Clin Exp Dermatol. 2016 Jan; 41(1):98-100.
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Majumdar A, Delatycki MB, Crowley P, Lokan J, Tharian B, Angus PW, Gow P. An autosomal dominant form of non-cirrhotic portal hypertension. J Hepatol. 2015 Aug; 63(2):525-7.
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Li M, He Z, Schaid DJ, Cleves MA, Nick TG, Lu Q. A powerful nonparametric statistical framework for family-based association analyses. Genetics. 2015 May; 200(1):69-78.
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Vengoechea J, McKelvey KD. Cholesterol and family history: when genetics matters. J Ark Med Soc. 2015 Feb; 111(9):184-6.
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Choudhary A, Sriphrapradang C, Refetoff S, Antal Z. Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading. J Pediatr Endocrinol Metab. 2015 Jan; 28(1-2):241-5.
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