(en) Maisonpierre PC, Le Beau MM, Espinosa R, Ip NY, Belluscio L, de la Monte SM, Squinto S, Furth ME, Yancopoulos GD, « Human and rat brain-derived neurotrophic factor and neurotrophin-3: gene structures, distributions, and chromosomal localizations », Genomics, vol. 10, no 3, , p. 558–568. (PMID1889806, DOI10.1016/0888-7543(91)90436-I).
(en) Acheson A, Conover JC, Fandl JP, DeChiara TM, Russell M, Thadani A, Squinto SP, Yancopoulos GD, Lindsay RM, « A BDNF autocrine loop in adult sensory neurons prevents cell death », Nature, vol. 374, no 6521, , p. 450–453 (PMID7700353, DOI10.1038/374450a0, Bibcode1995Natur.374..450A).
(en) Yamada K, Nabeshima T, « Brain-derived neurotrophic factor/TrkB signaling in memory processes », J. Pharmacol. Sci., vol. 91, no 4, , p. 267–270 (PMID12719654, DOI10.1254/jphs.91.267).
(en) Bekinschtein P, Cammarota M, Katche C, Slipczuk L, Rossato JI, Goldin A, Izquierdo I, Medina JH, « BDNF is essential to promote persistence of long-term memory storage », Proc. Natl. Acad. Sci. U.S.A., vol. 105, no 7, , p. 2711–2716 (PMID18263738, PMCID2268201, DOI10.1073/pnas.0711863105, Bibcode2008PNAS..105.2711B).
(en) Zigova T, Pencea V, Wiegand SJ, Luskin MB, « Intraventricular administration of BDNF increases the number of newly generated neurons in the adult olfactory bulb », Mol. Cell. Neurosci., vol. 11, no 4, , p. 234–245 (PMID9675054, DOI10.1006/mcne.1998.0684)
(en) Mandel AL, Ozdener H, Utermohlen V, « Identification of Pro- and Mature Brain-derived Neurotrophic Factor in Human Saliva », Arch. Oral Biol., vol. 54, no 7, , p. 689–695 (PMID19467646, PMCID2716651, DOI10.1016/j.archoralbio.2009.04.005).
(en) Patapoutian A, Reichardt LF, « Trk receptors: mediators of neurotrophin action », Curr. Opin. Neurobiol., vol. 11, no 3, , p. 272–280 (PMID11399424, DOI10.1016/S0959-4388(00)00208-7).
(en) Fernandes CC, Pinto-Duarte A, Ribeiro JA, Sebastião AM, « Postsynaptic action of brain-derived neurotrophic factor attenuates alpha7 nicotinic acetylcholine receptor-mediated responses in hippocampal interneurons », J. Neurosci., vol. 28, no 21, , p. 5611–5618 (PMID18495895, DOI10.1523/JNEUROSCI.5378-07.2008).
(en) Cotman CW, Berchtold NC, « Exercise: a behavioral intervention to enhance brain health and plasticity », Trends Neurosci., vol. 25, no 6, , p. 295–301 (PMID12086747, DOI10.1016/S0166-2236(02)02143-4).
(en) Bos I, De Boever P, Buekers J, Emmerechts J, Jacobs L, Mishra V, Meeusen R, Nemery B, Van Poppel M, Nawrot T, Int Panis L, « Traffic related gene expression changes in mouse brain tissue. », Inhalation Toxicology, vol. 24, no 10, , p. 676–686 (DOI10.3109/08958378.2012.714004).
(en) Costa MS, Botton PH, Mioranzza S, Ardais AP, Moreira JD, Souza DO, Porciúncula LO, « Caffeine improves adult mice performance in the object recognition task and increases BDNF and TrkB independent on phospho-CREB immunocontent in the hippocampus », Neurochem. Int., vol. 53, nos 3-4, , p. 89–94 (PMID18620014, DOI10.1016/j.neuint.2008.06.006).
Patama Gomutbutra, Nalinee Yingchankul, Nipon Chattipakorn et Siriporn Chattipakorn, « The Effect of Mindfulness-Based Intervention on Brain-Derived Neurotrophic Factor (BDNF): A Systematic Review and Meta-Analysis of Controlled Trials », Frontiers in Psychology, vol. 11, , p. 2209 (ISSN1664-1078, PMID33041891, PMCIDPMC7522212, DOI10.3389/fpsyg.2020.02209, lire en ligne, consulté le )
(en) Egan MF, Kojima M, Callicott JH, Goldberg TE, Kolachana BS, Bertolino A, Zaitsev E, Gold B, Goldman D, Dean M, Lu B, Weinberger DR, « The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function », Cell, vol. 112, no 2, , p. 257–269 (PMID12553913, DOI10.1016/S0092-8674(03)00035-7).
(en) Bath KG, Lee FS, « Variant BDNF (Val66Met) impact on brain structure and function », Cogn Affect Behav Neurosci, vol. 6, no 1, , p. 79–85 (PMID16869232, DOI10.3758/CABN.6.1.79).
Weese-Mayer DE, Bolk S, Silvestri JM, Chakravarti A, « Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation », Am. J. Med. Genet.(en), vol. 107, no 4, , p. 306–310 (PMID11840487, DOI10.1002/ajmg.10133).
(en) Thorleifsson G, Walters GB, Gudbjartsson DF, Steinthorsdottir V, Sulem P, Helgadottir A, Styrkarsdottir U, Gretarsdottir S, Thorlacius S, Jonsdottir I, Jonsdottir T, Olafsdottir EJ, Olafsdottir GH, Jonsson T, Jonsson F, Borch-Johnsen K, Hansen T, Andersen G, Jorgensen T, Lauritzen T, Aben KK, Verbeek AL, Roeleveld N, Kampman E, Yanek LR, Becker LC, Tryggvadottir L, Rafnar T, Becker DM, Gulcher J, Kiemeney LA, Pedersen O, Kong A, Thorsteinsdottir U, Stefansson K, « Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity », Nat. Genet., vol. 41, no 1, , p. 18–24 (PMID19079260, DOI10.1038/ng.274).
(en) Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU et al., « Six new loci associated with body mass index highlight a neuronal influence on body weight regulation », Nat. Genet., vol. 41, no 1, , p. 25–34 (PMID19079261, PMCID2695662, DOI10.1038/ng.287).
(en) Dwivedi Y, « Brain-derived neurotrophic factor: role in depression and suicide », Neuropsychiatr Dis Treat, vol. 5, , p. 433–449 (PMID19721723, PMCID2732010, DOI10.2147/NDT.S5700).
(en) Xiu MH, Hui L, Dang YF, De Hou T, Zhang CX, Zheng YL, Chen DC, Kosten TR, Zhang XY, « Decreased serum BDNF levels in chronic institutionalized schizophrenia on long-term treatment with typical and atypical antipsychotics », Prog. Neuropsychopharmacol. Biol. Psychiatry, vol. 33, no 8, , p. 1508–1512 (PMID19720106, DOI10.1016/j.pnpbp.2009.08.011).
(en) Maina G, Rosso G, Zanardini R, Bogetto F, Gennarelli M, Bocchio-Chiavetto L, « Serum levels of brain-derived neurotrophic factor in drug-naïve obsessive-compulsive patients: A case-control study », J Affect Disord, vol. 122, nos 1–2, , p. 174–178 (PMID19664825, DOI10.1016/j.jad.2009.07.009).
(en) Zuccato C, Cattaneo E, « Brain-derived neurotrophic factor in neurodegenerative diseases », Nat. Rev. Neurol. (Paris), vol. 5, no 6, , p. 311–322 (PMID19498435, DOI10.1038/nrneurol.2009.54).
(en) Zajac MS, Pang TY, Wong N, Weinrich B, Leang LS, Craig JM, Saffery R, Hannan AJ, « Wheel running and environmental enrichment differentially modify exon-specific BDNF expression in the hippocampus of wild-type and pre-motor symptomatic male and female Huntington's disease mice », Hippocampus, vol. 20, no 5, , p. 621–636 (PMID19499586, DOI10.1002/hipo.20658).
(en) Zeev BB, Bebbington A, Ho G, Leonard H, de Klerk N, Gak E, Vecsler M, Vecksler M, Christodoulou J, « The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome », Neurology, vol. 72, no 14, , p. 1242–1247 (PMID19349604, PMCID2677489, DOI10.1212/01.wnl.0000345664.72220.6a).
(en) Arancio O, Chao MV, « Neurotrophins, synaptic plasticity and dementia », Curr. Opin. Neurobiol., vol. 17, no 3, , p. 325–330 (PMID17419049, DOI10.1016/j.conb.2007.03.013).
(en) Mercader JM, Fernández-Aranda F, Gratacòs M, Ribasés M, Badía A, Villarejo C, Solano R, González JR, Vallejo J, Estivill X, « Blood levels of brain-derived neurotrophic factor correlate with several psychopathological symptoms in anorexia nervosa patients », Neuropsychobiology, vol. 56, no 4, , p. 185–190 (PMID18337636, DOI10.1159/000120623).
(en) Kaplan AS, Levitan RD, Yilmaz Z, Davis C, Tharmalingam S, Kennedy JL, « A DRD4/BDNF gene-gene interaction associated with maximum BMI in women with bulimia nervosa », Int J Eat Disord, vol. 41, no 1, , p. 22–28 (PMID17922530, DOI10.1002/eat.20474).
(en) Vargas-Perez H, Ting-A Kee R, Walton CH, Hansen DM, Razavi R, Clarke L, Bufalino MR, Allison DW, Steffensen SC, van der Kooy D, « Ventral tegmental area BDNF induces an opiate-dependent-like reward state in naive rats », Science, vol. 324, no 5935, , p. 1732–1734 (PMID19478142, PMCID2913611, DOI10.1126/science.1168501, Bibcode2009Sci...324.1732V).
Patama Gomutbutra, Nalinee Yingchankul, Nipon Chattipakorn et Siriporn Chattipakorn, « The Effect of Mindfulness-Based Intervention on Brain-Derived Neurotrophic Factor (BDNF): A Systematic Review and Meta-Analysis of Controlled Trials », Frontiers in Psychology, vol. 11, , p. 2209 (ISSN1664-1078, PMID33041891, PMCIDPMC7522212, DOI10.3389/fpsyg.2020.02209, lire en ligne, consulté le )
(en) Acheson A, Conover JC, Fandl JP, DeChiara TM, Russell M, Thadani A, Squinto SP, Yancopoulos GD, Lindsay RM, « A BDNF autocrine loop in adult sensory neurons prevents cell death », Nature, vol. 374, no 6521, , p. 450–453 (PMID7700353, DOI10.1038/374450a0, Bibcode1995Natur.374..450A).
(en) Bekinschtein P, Cammarota M, Katche C, Slipczuk L, Rossato JI, Goldin A, Izquierdo I, Medina JH, « BDNF is essential to promote persistence of long-term memory storage », Proc. Natl. Acad. Sci. U.S.A., vol. 105, no 7, , p. 2711–2716 (PMID18263738, PMCID2268201, DOI10.1073/pnas.0711863105, Bibcode2008PNAS..105.2711B).
(en) Vargas-Perez H, Ting-A Kee R, Walton CH, Hansen DM, Razavi R, Clarke L, Bufalino MR, Allison DW, Steffensen SC, van der Kooy D, « Ventral tegmental area BDNF induces an opiate-dependent-like reward state in naive rats », Science, vol. 324, no 5935, , p. 1732–1734 (PMID19478142, PMCID2913611, DOI10.1126/science.1168501, Bibcode2009Sci...324.1732V).
intjdevbiol.com
(en) Ernfors P, Kucera J, Lee KF, Loring J, Jaenisch R, « Studies on the physiological role of brain-derived neurotrophic factor and neurotrophin-3 in knockout mice », Int. J. Dev. Biol., vol. 39, no 5, , p. 799–807 (PMID8645564, lire en ligne).
Patama Gomutbutra, Nalinee Yingchankul, Nipon Chattipakorn et Siriporn Chattipakorn, « The Effect of Mindfulness-Based Intervention on Brain-Derived Neurotrophic Factor (BDNF): A Systematic Review and Meta-Analysis of Controlled Trials », Frontiers in Psychology, vol. 11, , p. 2209 (ISSN1664-1078, PMID33041891, PMCIDPMC7522212, DOI10.3389/fpsyg.2020.02209, lire en ligne, consulté le )
(en) Benraiss A, Chmielnicki E, Lerner K, Roh D, Goldman SA, « Adenoviral brain-derived neurotrophic factor induces both neostriatal and olfactory neuronal recruitment from endogenous progenitor cells in the adult forebrain », J. Neurosci., vol. 21, no 17, , p. 6718–6731 (PMID11517261, lire en ligne).
(en) Pencea V, Bingaman KD, Wiegand SJ, Luskin MB, « Infusion of brain-derived neurotrophic factor into the lateral ventricle of the adult rat leads to new neurons in the parenchyma of the striatum, septum, thalamus, and hypothalamus », J. Neurosci., vol. 21, no 17, , p. 6706–6717 (PMID11517260, lire en ligne).
medecinesciences.org
Vincent Bischoff, Vassiliki Nikoletopoulou et Yves-Alain Barde, « « Sauver ou tuer L’ambivalence des récepteurs des neurotrophines » », Medecine/sciences, vol. 27, no 2, , pp. 119-121 (lire en ligne)
Vincent Bischoff, Vassiliki Nikoletopoulou et Yves-Alain Barde, « Sauver ou tuer
L’ambivalence des récepteurs des neurotrophines », Medecine/sciences, , p. 119-121 (lire en ligne)
(en) Maisonpierre PC, Le Beau MM, Espinosa R, Ip NY, Belluscio L, de la Monte SM, Squinto S, Furth ME, Yancopoulos GD, « Human and rat brain-derived neurotrophic factor and neurotrophin-3: gene structures, distributions, and chromosomal localizations », Genomics, vol. 10, no 3, , p. 558–568. (PMID1889806, DOI10.1016/0888-7543(91)90436-I).
(en) Acheson A, Conover JC, Fandl JP, DeChiara TM, Russell M, Thadani A, Squinto SP, Yancopoulos GD, Lindsay RM, « A BDNF autocrine loop in adult sensory neurons prevents cell death », Nature, vol. 374, no 6521, , p. 450–453 (PMID7700353, DOI10.1038/374450a0, Bibcode1995Natur.374..450A).
(en) Yamada K, Nabeshima T, « Brain-derived neurotrophic factor/TrkB signaling in memory processes », J. Pharmacol. Sci., vol. 91, no 4, , p. 267–270 (PMID12719654, DOI10.1254/jphs.91.267).
(en) Bekinschtein P, Cammarota M, Katche C, Slipczuk L, Rossato JI, Goldin A, Izquierdo I, Medina JH, « BDNF is essential to promote persistence of long-term memory storage », Proc. Natl. Acad. Sci. U.S.A., vol. 105, no 7, , p. 2711–2716 (PMID18263738, PMCID2268201, DOI10.1073/pnas.0711863105, Bibcode2008PNAS..105.2711B).
(en) Zigova T, Pencea V, Wiegand SJ, Luskin MB, « Intraventricular administration of BDNF increases the number of newly generated neurons in the adult olfactory bulb », Mol. Cell. Neurosci., vol. 11, no 4, , p. 234–245 (PMID9675054, DOI10.1006/mcne.1998.0684)
(en) Benraiss A, Chmielnicki E, Lerner K, Roh D, Goldman SA, « Adenoviral brain-derived neurotrophic factor induces both neostriatal and olfactory neuronal recruitment from endogenous progenitor cells in the adult forebrain », J. Neurosci., vol. 21, no 17, , p. 6718–6731 (PMID11517261, lire en ligne).
(en) Pencea V, Bingaman KD, Wiegand SJ, Luskin MB, « Infusion of brain-derived neurotrophic factor into the lateral ventricle of the adult rat leads to new neurons in the parenchyma of the striatum, septum, thalamus, and hypothalamus », J. Neurosci., vol. 21, no 17, , p. 6706–6717 (PMID11517260, lire en ligne).
(en) Ernfors P, Kucera J, Lee KF, Loring J, Jaenisch R, « Studies on the physiological role of brain-derived neurotrophic factor and neurotrophin-3 in knockout mice », Int. J. Dev. Biol., vol. 39, no 5, , p. 799–807 (PMID8645564, lire en ligne).
(en) Mandel AL, Ozdener H, Utermohlen V, « Identification of Pro- and Mature Brain-derived Neurotrophic Factor in Human Saliva », Arch. Oral Biol., vol. 54, no 7, , p. 689–695 (PMID19467646, PMCID2716651, DOI10.1016/j.archoralbio.2009.04.005).
(en) Patapoutian A, Reichardt LF, « Trk receptors: mediators of neurotrophin action », Curr. Opin. Neurobiol., vol. 11, no 3, , p. 272–280 (PMID11399424, DOI10.1016/S0959-4388(00)00208-7).
(en) Fernandes CC, Pinto-Duarte A, Ribeiro JA, Sebastião AM, « Postsynaptic action of brain-derived neurotrophic factor attenuates alpha7 nicotinic acetylcholine receptor-mediated responses in hippocampal interneurons », J. Neurosci., vol. 28, no 21, , p. 5611–5618 (PMID18495895, DOI10.1523/JNEUROSCI.5378-07.2008).
(en) Cotman CW, Berchtold NC, « Exercise: a behavioral intervention to enhance brain health and plasticity », Trends Neurosci., vol. 25, no 6, , p. 295–301 (PMID12086747, DOI10.1016/S0166-2236(02)02143-4).
(en) Costa MS, Botton PH, Mioranzza S, Ardais AP, Moreira JD, Souza DO, Porciúncula LO, « Caffeine improves adult mice performance in the object recognition task and increases BDNF and TrkB independent on phospho-CREB immunocontent in the hippocampus », Neurochem. Int., vol. 53, nos 3-4, , p. 89–94 (PMID18620014, DOI10.1016/j.neuint.2008.06.006).
Patama Gomutbutra, Nalinee Yingchankul, Nipon Chattipakorn et Siriporn Chattipakorn, « The Effect of Mindfulness-Based Intervention on Brain-Derived Neurotrophic Factor (BDNF): A Systematic Review and Meta-Analysis of Controlled Trials », Frontiers in Psychology, vol. 11, , p. 2209 (ISSN1664-1078, PMID33041891, PMCIDPMC7522212, DOI10.3389/fpsyg.2020.02209, lire en ligne, consulté le )
(en) Egan MF, Kojima M, Callicott JH, Goldberg TE, Kolachana BS, Bertolino A, Zaitsev E, Gold B, Goldman D, Dean M, Lu B, Weinberger DR, « The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function », Cell, vol. 112, no 2, , p. 257–269 (PMID12553913, DOI10.1016/S0092-8674(03)00035-7).
(en) Bath KG, Lee FS, « Variant BDNF (Val66Met) impact on brain structure and function », Cogn Affect Behav Neurosci, vol. 6, no 1, , p. 79–85 (PMID16869232, DOI10.3758/CABN.6.1.79).
Weese-Mayer DE, Bolk S, Silvestri JM, Chakravarti A, « Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation », Am. J. Med. Genet.(en), vol. 107, no 4, , p. 306–310 (PMID11840487, DOI10.1002/ajmg.10133).
(en) Thorleifsson G, Walters GB, Gudbjartsson DF, Steinthorsdottir V, Sulem P, Helgadottir A, Styrkarsdottir U, Gretarsdottir S, Thorlacius S, Jonsdottir I, Jonsdottir T, Olafsdottir EJ, Olafsdottir GH, Jonsson T, Jonsson F, Borch-Johnsen K, Hansen T, Andersen G, Jorgensen T, Lauritzen T, Aben KK, Verbeek AL, Roeleveld N, Kampman E, Yanek LR, Becker LC, Tryggvadottir L, Rafnar T, Becker DM, Gulcher J, Kiemeney LA, Pedersen O, Kong A, Thorsteinsdottir U, Stefansson K, « Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity », Nat. Genet., vol. 41, no 1, , p. 18–24 (PMID19079260, DOI10.1038/ng.274).
(en) Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU et al., « Six new loci associated with body mass index highlight a neuronal influence on body weight regulation », Nat. Genet., vol. 41, no 1, , p. 25–34 (PMID19079261, PMCID2695662, DOI10.1038/ng.287).
(en) Dwivedi Y, « Brain-derived neurotrophic factor: role in depression and suicide », Neuropsychiatr Dis Treat, vol. 5, , p. 433–449 (PMID19721723, PMCID2732010, DOI10.2147/NDT.S5700).
(en) Xiu MH, Hui L, Dang YF, De Hou T, Zhang CX, Zheng YL, Chen DC, Kosten TR, Zhang XY, « Decreased serum BDNF levels in chronic institutionalized schizophrenia on long-term treatment with typical and atypical antipsychotics », Prog. Neuropsychopharmacol. Biol. Psychiatry, vol. 33, no 8, , p. 1508–1512 (PMID19720106, DOI10.1016/j.pnpbp.2009.08.011).
(en) Maina G, Rosso G, Zanardini R, Bogetto F, Gennarelli M, Bocchio-Chiavetto L, « Serum levels of brain-derived neurotrophic factor in drug-naïve obsessive-compulsive patients: A case-control study », J Affect Disord, vol. 122, nos 1–2, , p. 174–178 (PMID19664825, DOI10.1016/j.jad.2009.07.009).
(en) Zuccato C, Cattaneo E, « Brain-derived neurotrophic factor in neurodegenerative diseases », Nat. Rev. Neurol. (Paris), vol. 5, no 6, , p. 311–322 (PMID19498435, DOI10.1038/nrneurol.2009.54).
(en) Zajac MS, Pang TY, Wong N, Weinrich B, Leang LS, Craig JM, Saffery R, Hannan AJ, « Wheel running and environmental enrichment differentially modify exon-specific BDNF expression in the hippocampus of wild-type and pre-motor symptomatic male and female Huntington's disease mice », Hippocampus, vol. 20, no 5, , p. 621–636 (PMID19499586, DOI10.1002/hipo.20658).
(en) Zeev BB, Bebbington A, Ho G, Leonard H, de Klerk N, Gak E, Vecsler M, Vecksler M, Christodoulou J, « The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome », Neurology, vol. 72, no 14, , p. 1242–1247 (PMID19349604, PMCID2677489, DOI10.1212/01.wnl.0000345664.72220.6a).
(en) Arancio O, Chao MV, « Neurotrophins, synaptic plasticity and dementia », Curr. Opin. Neurobiol., vol. 17, no 3, , p. 325–330 (PMID17419049, DOI10.1016/j.conb.2007.03.013).
(en) Mercader JM, Fernández-Aranda F, Gratacòs M, Ribasés M, Badía A, Villarejo C, Solano R, González JR, Vallejo J, Estivill X, « Blood levels of brain-derived neurotrophic factor correlate with several psychopathological symptoms in anorexia nervosa patients », Neuropsychobiology, vol. 56, no 4, , p. 185–190 (PMID18337636, DOI10.1159/000120623).
(en) Kaplan AS, Levitan RD, Yilmaz Z, Davis C, Tharmalingam S, Kennedy JL, « A DRD4/BDNF gene-gene interaction associated with maximum BMI in women with bulimia nervosa », Int J Eat Disord, vol. 41, no 1, , p. 22–28 (PMID17922530, DOI10.1002/eat.20474).
(en) Vargas-Perez H, Ting-A Kee R, Walton CH, Hansen DM, Razavi R, Clarke L, Bufalino MR, Allison DW, Steffensen SC, van der Kooy D, « Ventral tegmental area BDNF induces an opiate-dependent-like reward state in naive rats », Science, vol. 324, no 5935, , p. 1732–1734 (PMID19478142, PMCID2913611, DOI10.1126/science.1168501, Bibcode2009Sci...324.1732V).
Weese-Mayer DE, Bolk S, Silvestri JM, Chakravarti A, « Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation », Am. J. Med. Genet.(en), vol. 107, no 4, , p. 306–310 (PMID11840487, DOI10.1002/ajmg.10133).