<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0864-0300</journal-id>
<journal-title><![CDATA[Revista Cubana de Investigaciones Biomédicas]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Cubana Invest Bioméd]]></abbrev-journal-title>
<issn>0864-0300</issn>
<publisher>
<publisher-name><![CDATA[ECIMED]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0864-03002023000100011</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Estudio clínico y molecular en pacientes cubanos con neurofibromatosis tipo i]]></article-title>
<article-title xml:lang="en"><![CDATA[Clinical and molecular study in cuban patients with type i neurofibromatosis]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Clark Feoktistova]]></surname>
<given-names><![CDATA[Yulia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martínez Rubio]]></surname>
<given-names><![CDATA[Aracelis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hernández Pérez]]></surname>
<given-names><![CDATA[Yadira]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Feoktistova]]></surname>
<given-names><![CDATA[Liudmila]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Orraca Castillo]]></surname>
<given-names><![CDATA[Miladys]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Morales Peralta]]></surname>
<given-names><![CDATA[Estela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Guantánamo  ]]></institution>
<addr-line><![CDATA[Guantánamo ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro Provincial de Genética Médica  ]]></institution>
<addr-line><![CDATA[Guantánamo ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de Ciencias Médicas de La Habana Centro Nacional de Genética Médica ]]></institution>
<addr-line><![CDATA[ La Habana]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Ministerio Salud Pública  ]]></institution>
<addr-line><![CDATA[ La Habana]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Universidad de Ciencias Médicas de La Habana Hospital Clínico-Quirúrgico &#8220;10 de Octubre&#8221; ]]></institution>
<addr-line><![CDATA[ La Habana]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2023</year>
</pub-date>
<volume>42</volume>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S0864-03002023000100011&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S0864-03002023000100011&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S0864-03002023000100011&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción: La neurofibromatosis tipo i es una enfermedad hereditaria, autosómica dominante, multisistémica, progresiva con penetrancia completa y expresividad variable. El análisis de las familias con marcadores moleculares permite realizar el diagnóstico por métodos indirectos.  Objetivos: Estudiar dos familias cubanas con al menos un caso de neurofibromatosis tipo i e identificar los alelos resultantes del polimorfismo para el diagnóstico molecular.  Métodos: Se realizó un estudio descriptivo a dos familias con al menos un caso de neurofibromatosis tipo i. Se extrajo el ADN con la técnica de precipitación salina y fue utilizada la reacción en cadena de la polimerasa para la amplificación del fragmento de interés. Se realizó la digestión enzimática con la enzima Rsai para analizar los alelos del polimorfismo estudiado y posteriormente hacer la electroforesis en gel de agarosa al 2 %.  Resultados: Las manifestaciones clínicas más frecuentes fueron las manchas color café con leche, pecas axilares e inguinales y lesiones óseas. Se detectaron los alelos 1 y 2 al analizar el polimorfismo en las muestras. Las frecuencias alélicas fueron 38,5 % y 61,5 % respectivamente.  Conclusiones: Fueron identificadas las principales manifestaciones clínicas en los pacientes. La técnica para el análisis del polimorfimo permitió el estudio molecular en las familias con neurofibromatosis tipo i. Se detectaron los alelos del marcador molecular y sus frecuencias. Se realizó el diagnóstico molecular de los individuos sospechosos.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  Neurofibromatosis type i is a hereditary, autosomal dominant, multisystemic, progressive disease with complete penetrance and variable manifestation. The analysis of families with molecular markers allows diagnosis by indirect methods.  Objectives:  To study two Cuban families with at least one case of neurofibromatosis type i and to identify the alleles resulting from the polymorphism for molecular diagnosis.  Methods:  A descriptive study of two families with at least one case of neurofibromatosis type i was performed. DNA was extracted with the saline precipitation technique and polymerase chain reaction was used for amplification of the fragment of interest. Enzymatic digestion was performed with the RsaI enzyme to analyze the alleles of the polymorphism studied and then to perform electrophoresis in 2% agarose gel.  Results:  The most frequent clinical manifestations were café-au-lait spots, axillary and inguinal freckles and bone lesions. Alleles 1 and 2 were detected when analyzing the polymorphism in the samples. The allele frequencies were 38.5 % and 61.5 % respectively.  Conclusions:  The main clinical manifestations in patients were identified. The technique for polymorphism analysis allowed the molecular study in the families with neurofibromatosis type i. The alleles of the molecular marker and their frequencies were detected. Molecular diagnosis of suspected individuals was performed.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[neurofibromatosis tipo i]]></kwd>
<kwd lng="es"><![CDATA[fenotipo]]></kwd>
<kwd lng="es"><![CDATA[genotipo]]></kwd>
<kwd lng="en"><![CDATA[neurofibromatosis type i]]></kwd>
<kwd lng="en"><![CDATA[phenotype]]></kwd>
<kwd lng="en"><![CDATA[genotype]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kallionpaa]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Uusitalo]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Leppavirta]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Poyhonen]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Peltonen]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Peltonen]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prevalence of neurofibromatosis type 1 in the Finnish population]]></article-title>
<source><![CDATA[Genet Med]]></source>
<year>2018</year>
<volume>20</volume>
<numero>9</numero>
<issue>9</issue>
<page-range>1082-6</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Orraca]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Morejón]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Cabrera]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Menéndez]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Orraca]]></surname>
<given-names><![CDATA[O.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Neurofibromatosis 1 prevalence in children Aged 9-11 years, Pinar del Río province, Cuba]]></article-title>
<source><![CDATA[Medicc Rev]]></source>
<year>2014</year>
<volume>16</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>22-6</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Legius]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Messiaen]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Wolkenstein]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Pancza]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Avery]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Berman]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome an international consensus recommendation]]></article-title>
<source><![CDATA[Genet Med]]></source>
<year>2021</year>
<volume>23</volume>
<page-range>1506-13</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Suerink]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Ripperger]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Messiaen]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Menko]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Bourdeaut]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Colas]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy]]></article-title>
<source><![CDATA[J Med Genet]]></source>
<year>2019</year>
<volume>56</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>53-62</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gutmann]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Ferner]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Listernick]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Korf]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Wolters]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Johnson]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[neurofibromatosis type 1]]></article-title>
<source><![CDATA[Nat Rev Dis Primers]]></source>
<year>2017</year>
<volume>3</volume>
</nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Buchholzer]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Verdeja]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Lombardi]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Type I Neurofibromatosis: case report and review of the literature focused on oral and cutaneous lesions]]></article-title>
<source><![CDATA[Dermatopathol]]></source>
<year>2021</year>
<volume>8</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>17-24</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Tamura]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Current understanding of neurofibromatosis type 1, 2 and Schwannomatosis]]></article-title>
<source><![CDATA[Int J Mol Sci]]></source>
<year>2021</year>
<volume>22</volume>
<numero>11</numero>
<issue>11</issue>
</nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Koczkowska]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Callens]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Gomes]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Hicks]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Sharp]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1]]></article-title>
<source><![CDATA[Hum Mutat]]></source>
<year>2020</year>
<volume>41</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>299-315</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Koczkowska]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Callens]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Gomes]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Sharp]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Johnson]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genotype-phenotype correlation in NF1 evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844-848]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2018</year>
<volume>102</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>69-87</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gómez]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Botero]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Tierradentro]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Vélez]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Neurofibromatosis tipo 1 relación genotipo-fenotipo]]></article-title>
<source><![CDATA[Act Neurol Colomb]]></source>
<year>2020</year>
<volume>36</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>93-9</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bin]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Ch]]></surname>
<given-names><![CDATA[Siyu]]></given-names>
</name>
<name>
<surname><![CDATA[Ch]]></surname>
<given-names><![CDATA[Xin]]></given-names>
</name>
<name>
<surname><![CDATA[Xiumei]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Xiaojia]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Tao]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1]]></article-title>
<source><![CDATA[BMC Med Genet]]></source>
<year>2018</year>
<volume>19</volume>
</nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kirat]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Mutlu]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The Spectrum of NF1 Gene Variations in Southeastern Turkey]]></article-title>
<source><![CDATA[J Pediatr Res]]></source>
<year>2021</year>
<volume>8</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>286-96</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Pacot]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Vidaud]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Sabbagh]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Laurendeau]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Briand-Suleau]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Coustier]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Severe phenotype in patients with large deletions of NF1]]></article-title>
<source><![CDATA[Cancer]]></source>
<year>2021</year>
<volume>13</volume>
<numero>12</numero>
<issue>12</issue>
</nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wei]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Cheng-Jiang]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Xi-Wei]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Yue-Hua]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Yi-Hui]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Bin]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Impacts of NF1 gene mutations and genetic modifiers in neurofibromatosis type 1]]></article-title>
<source><![CDATA[Neurol]]></source>
<year>2021</year>
<volume>12</volume>
</nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Fang]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Chalhoub]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Feingold]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Ortenberg]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Lemieux]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genotype analysis of the NF1 gene in the french canadians from the Quebec population]]></article-title>
<source><![CDATA[Am J of Med Genet]]></source>
<year>2001</year>
<volume>104</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>189-98</page-range></nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Miller]]></surname>
<given-names><![CDATA[SA]]></given-names>
</name>
<name>
<surname><![CDATA[Dykes]]></surname>
<given-names><![CDATA[DD]]></given-names>
</name>
<name>
<surname><![CDATA[Polesky]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A simple salting out procedure for extracting DNA from human nucleated cells]]></article-title>
<source><![CDATA[Nucleic Acids Res]]></source>
<year>1988</year>
<volume>16</volume>
<numero>3</numero>
<issue>3</issue>
</nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Vaucheret]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[López]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Puga]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[García]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Baliarda]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Ekonen]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cognitive profile and disorders affecting higher brain functions in paediatric patients with neurofibromatosis type 1]]></article-title>
<source><![CDATA[Neurol]]></source>
<year>2017</year>
<volume>17</volume>
<numero>30</numero>
<issue>30</issue>
<page-range>148-2</page-range></nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Nishida]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Ikuta]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Natsume]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Ishihara]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Morikawa]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Kidokoro]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital]]></article-title>
<source><![CDATA[Nature]]></source>
<year>2021</year>
<volume>11</volume>
</nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Woycinck]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Brussa]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Finger]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Ashton-Prolla]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Rosset]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Systems biology approaches reveal potential phenotype-modifier genes in neurofibromatosis type 1]]></article-title>
<source><![CDATA[Cancer]]></source>
<year>2020</year>
<volume>12</volume>
<numero>9</numero>
<issue>9</issue>
</nlm-citation>
</ref>
<ref id="B20">
<label>20</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wei]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[ChJ]]></surname>
<given-names><![CDATA[Wei]]></given-names>
</name>
<name>
<surname><![CDATA[Cui]]></surname>
<given-names><![CDATA[XW]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[YH]]></given-names>
</name>
<name>
<surname><![CDATA[Gu]]></surname>
<given-names><![CDATA[YH]]></given-names>
</name>
<name>
<surname><![CDATA[Gu]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Impacts of NF1 gene mutations and genetic modifiers in neurofibromatosis type 1]]></article-title>
<source><![CDATA[Neurol]]></source>
<year>2021</year>
<volume>12</volume>
</nlm-citation>
</ref>
<ref id="B21">
<label>21</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Korfhage]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Lombard]]></surname>
<given-names><![CDATA[DB]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Malignant peripheral nerve sheath tumors: from epigenome to bedside]]></article-title>
<source><![CDATA[Mol Cancer Res]]></source>
<year>2019</year>
<volume>17</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>1417-28</page-range></nlm-citation>
</ref>
<ref id="B22">
<label>22</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[de Paula]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Costa]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Alvim-Soares]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Araújo]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Rodrigues]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Malloy-Diniz]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Association between a functional polymorphism of the BDNF gene and visuospatial memory in a sample of neurofibromatosis type 1]]></article-title>
<source><![CDATA[Psychol Neurosci]]></source>
<year>2021</year>
<volume>14</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>379-87</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
