References of "VERLOES, Alain"
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See detailFemoral-facial syndrome: long term follow-up and associated array CGH abnormalities.
JACQUINET, Adeline ULg; VALDES SOCIN, Hernan Gonzalo ULg; LIBIOULLE, Cécile ULg et al

Poster (2013, October 22)

The femoral-facial syndrome is usually sporadic and its aetiology remains unknown. Non-genetic factors as maternal diabetes mellitus have been associated. Reports of familial cases have otherwise ... [more ▼]

The femoral-facial syndrome is usually sporadic and its aetiology remains unknown. Non-genetic factors as maternal diabetes mellitus have been associated. Reports of familial cases have otherwise suggested autosomal dominant inheritance. We report the 20 years clinical follow-up of a girl with femoral-facial syndrome diagnosed at birth. Recently, array CGH investigation identified a 1400 kb duplication at 9q31.1, including the gene SMC2, and a 343 kb deletion at 12q24.33 including the genes CHFR, ZNF26, ZNF140, ZNF10 and ZNF268. Moreover, the patient presents a Mayer-Rokitansky-Kuster-Hauser syndrome diagnosed at puberty. Femoral-facial syndrome and Mullerian agenesis may reflect different defects in the primary axial mesodermal development, being the consequences of same environmental or/and genetic factors during blastogenesis. Among these genetic factors, we suggest the possible involvement of the two copy number variants reported here [less ▲]

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See detailTemple-Baraitser syndrome: a rare and possibly unrecognized condition.
Jacquinet, Adeline ULg; Gerard, Marion; Gabbett, Michael T et al

in American Journal of Medical Genetics. Part A (2010), 152A(9), 2322-6

Temple-Baraitser syndrome, previously described in two unrelated patients, is the association of severe mental retardation and abnormal thumbs and great toes. We report two additional unrelated patients ... [more ▼]

Temple-Baraitser syndrome, previously described in two unrelated patients, is the association of severe mental retardation and abnormal thumbs and great toes. We report two additional unrelated patients with Temple-Baraitser syndrome, review clinical and radiological features of previously reported cases and discuss mode of inheritance. Patients share a consistent pattern of anomalies: hypo or aplasia of the thumb and great toe nails and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. All patients were born to unrelated parents and occurred as a single occurrence in multiple sibships, suggesting sporadic inheritance from a de novo mutation mechanism. Comparative genomic hybridization in Patients 1, 2 and 3 did not reveal any copy number variations. We confirm that Temple-Baraitser syndrome represents a distinct syndrome, probably unrecognized, possibly caused by a de novo mutation in a not yet identified gene. [less ▲]

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See detailBCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Hilton, Emma; Johnston, Jennifer; Whalen, Sandra et al

in European Journal of Human Genetics (2009), 17(10), 1325-35

Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental ... [more ▼]

Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 corepressor gene (BCOR). To extend the series of phenotypes associated with pathogenic mutations in BCOR, we sequenced the BCOR gene in patients with (1) OFCD syndrome, (2) putative X-linked ('Lenz') microphthalmia syndrome, (3) isolated ocular defects and (4) laterality phenotypes. We present a new cohort of females with OFCD syndrome and null mutations in BCOR, supporting the hypothesis that BCOR is the sole molecular cause of this syndrome. We identify for the first time mosaic BCOR mutations in two females with OFCD syndrome and one apparently asymptomatic female. We present a female diagnosed with isolated ocular defects and identify minor features of OFCD syndrome, suggesting that OFCD syndrome may be mild and underdiagnosed. We have sequenced a cohort of males diagnosed with putative X-linked microphthalmia and found a mutation, p.P85L, in a single case, suggesting that BCOR mutations are not a major cause of X-linked microphthalmia in males. The absence of BCOR mutations in a panel of patients with non-specific laterality defects suggests that mutations in BCOR are not a major cause of isolated heart and laterality defects. Phenotypic analysis of OFCD and Lenz microphthalmia syndromes shows that in addition to the standard diagnostic criteria of congenital cataract, microphthalmia and radiculomegaly, patients should be examined for skeletal defects, particularly radioulnar synostosis, and cardiac/laterality defects. [less ▲]

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See detailPrecocious puberty associated with partial trisomy 18q and monosomy 11q
Mutesa, Léon; Hellin, A. C.; Jamar, Michelle ULg et al

in Genetic Counseling (Geneva, Switzerland) (2007), 18(2), 201-207

We report a 10-years-old female patient with a partial trisomy 18q and monosomy 11q due to a maternal translocation. The phenotype of our proband is partially common with Jacobsen syndrome and duplication ... [more ▼]

We report a 10-years-old female patient with a partial trisomy 18q and monosomy 11q due to a maternal translocation. The phenotype of our proband is partially common with Jacobsen syndrome and duplication 18q but she has also some atypical anomalies such as precocious puberty, a retinal albinism and hypermetropia. Based on cytogenetics and FISH analysis, the karyotype of the proband was 46,XX,der(11)t(11;18)(q24;q13). To the best of our knowledge, this is the first report of precocious puberty associated with either dup(18q) or del(11q) syndromes. [less ▲]

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See detailLes grandes tailles: quelques grands syndromes et revue de la litterature
Gusbin, Natacha ULg; Verloes, Alain ULg; Daly, Adrian ULg et al

in Revue Médicale de Liège (2006), 61(7-8, Jul-Aug), 572-80

We describe the findings of XYY syndrome in the setting of encountering an individual with this particular condition in the endocrinology clinic. XYY syndrome is a relatively frequent if unfamiliar ... [more ▼]

We describe the findings of XYY syndrome in the setting of encountering an individual with this particular condition in the endocrinology clinic. XYY syndrome is a relatively frequent if unfamiliar condition, which is characterized by taller than average height. The extra Y chromosome may play a role in determining the height of these individuals. From this case, a differential diagnosis of tall stature is outlined, in addition to a description of the principal syndromes associated with gigantism. These primarily include Klinefelter syndrome, Marfan syndrome, androgen resistance and growth hormone excess. These various entities are described from the point of view of their symptomatology, biology, pathophysiology and therapeutic characteristics. [less ▲]

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See detailDiffuse cortical atrophy in a patient with Turner syndrome and Leber hereditary optic neuropathy
Blaise, Pierre ULg; Fumal, Arnaud ULg; Janin, Nicolas ULg et al

in Journal of Neurology (2005), 252(2), 232-233

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See detailBony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias
Verloes, Alain ULg; Raoul, M.; Genevieve, D. et al

in Clinical Dysmorphology (2004), 13(4), 205-211

Congenital bony fusion of the maxilla and mandible is a rare condition. Two classifications were previously proposed dealing exclusively with craniofacial malformations. Most of the reported cases to date ... [more ▼]

Congenital bony fusion of the maxilla and mandible is a rare condition. Two classifications were previously proposed dealing exclusively with craniofacial malformations. Most of the reported cases to date represent either aglossia-aclactylia or hemifacial microsomia syndromes. We report a young girl with bony syngnathia associated with multiple defects (severe microcephaly, coloboma, vertebral segmentation defects), growth and mental delay. This patient is very similar to the patient described by Dobrow in 1983 and confirms the existence of this extremely rare disorder. (C) 2004 Lippincott Williams Wilkins. [less ▲]

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See detailGenome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13.
Shibamura, Hidenori; Olson, Jane M; van Vlijmen-Van Keulen, Clarissa et al

in Circulation (2004), 109(17), 2103-8

BACKGROUND: Abdominal aortic aneurysm (AAA) is a relatively common disease, with 1% to 2% of the population harboring aneurysms. Genetic risk factors are likely to contribute to the development of AAAs ... [more ▼]

BACKGROUND: Abdominal aortic aneurysm (AAA) is a relatively common disease, with 1% to 2% of the population harboring aneurysms. Genetic risk factors are likely to contribute to the development of AAAs, although no such risk factors have been identified. METHODS AND RESULTS: We performed a whole-genome scan of AAA using affected-relative-pair (ARP) linkage analysis that includes covariates to allow for genetic heterogeneity. We found strong evidence of linkage (logarithm of odds [LOD] score=4.64) to a region near marker D19S433 at 51.88 centimorgans (cM) on chromosome 19 with 36 families (75 ARPs) when including sex and the number of affected first-degree relatives of the proband (N(aff)) as covariates. We then genotyped 83 additional families for the same markers and typed additional markers for all families and obtained a LOD score of 4.75 (P=0.00014) with sex, N(aff), and their interaction as covariates near marker D19S416 (58.69 cM). We also identified a region on chromosome 4 with a LOD score of 3.73 (P=0.0012) near marker D4S1644 using the same covariate model as for chromosome 19. CONCLUSIONS: Our results provide evidence for genetic heterogeneity and the presence of susceptibility loci for AAA on chromosomes 19q13 and 4q31. [less ▲]

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See detailHypertrichosis, fallot tetralogy, growth and developmental delay
Verloes, Alain ULg; Massin, Martial; Fransolet, Anne-Catherine et al

in Clinical Dysmorphology (2004), 13

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See detailSubtle trisomy 12q24.3 and subtle monosomy 22q13.3: Three new cases and review
Rodriguez, L.; Guardia, N. M.; Herens, Christian ULg et al

in American Journal of Medical Genetics. Part A (2003), 122A(2), 119-124

The high resolution G-bands (850 bands) karyotype have made it possible to identify small chromosome anomalies (5 megabases) which are now microscopically visible. New techniques have been improved, such ... [more ▼]

The high resolution G-bands (850 bands) karyotype have made it possible to identify small chromosome anomalies (5 megabases) which are now microscopically visible. New techniques have been improved, such as the Fluorescent in situ hybridization (FISH) with subtelomeric probes, which can be employed to detect cryptic chromosome alterations not visible microscopically. We present three cases which had been remitted for a high resolution karyotype. The high resolution G-band karyotype and the FISH techniques led us to conclude that the three cases were carriers of a similar subtle chromosomal alteration. Case I is a new born female with developmental and psychomotor delay, hypotonia, and long limbs with arachnodactily. A high resolution G-band karyotype showed an abnormal chromosome 22. FISH techniques confirmed a der(22)t(12;22)(q24.31;q13.3). Case II is a 12-year-old girl, with growth retardation, long shaped face with thick eyebrows, smooth philtrum, and thin upper lip with severe mental retardation (still no language), with a phenotype very similar to that of his sister: long shaped face, thick eyebrows, smooth philtrum, and thin upper lip. A high resolution G-band karyotype also showed in Case II and III an abnormal chromosome 22, studied by FISH techniques which confirmed a der(22)t(12;-22)(q24.3; q13.3) in both cases. (C) 2003 Wiley-Liss, Inc. [less ▲]

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See detailFamilial abdominal aortic aneurysms: collection of 233 multiplex families.
Kuivaniemi, Helena; Shibamura, Hidenori; Arthur, Claudette et al

in Journal of Vascular Surgery (2003), 37(2), 340-5

OBJECTIVE: This study investigated a large number of families in which at least two individuals were diagnosed with abdominal aortic aneurysms to identify the relationship of the affected relatives to the ... [more ▼]

OBJECTIVE: This study investigated a large number of families in which at least two individuals were diagnosed with abdominal aortic aneurysms to identify the relationship of the affected relatives to the proband. Subjects and Methods: Families for the study were recruited through various vascular surgery centers in the United States, Finland, Belgium, Canada, the Netherlands, Sweden, and the United Kingdom and through our patient recruitment website (www.genetics.wayne.edu/ags). RESULTS: We identified 233 families with at least two individuals diagnosed with abdominal aortic aneurysms. The families originated from nine different nationalities, but all were white. There were 653 aneurysm patients in these families, with an average of 2.8 cases per family. Most of the families were small, with only two affected individuals. There were, however, six families with six, three with seven, and one with eight affected individuals. Most of the probands (82%) and the affected relatives (77%) were male, and the most common relationship to the proband was brother. Most of the families (72%) appeared to show autosomal recessive inheritance pattern, whereas in 58 families (25%), abdominal aortic aneurysms were inherited in autosomal dominant manner, and in eight families, the familial aggregation could be explained by autosomal dominant inheritance with incomplete penetrance. In the 66 families where abdominal aortic aneurysms were inherited in a dominant manner, 141 transmissions of the disease from one generation to another were identified, and the male-to-male, male-to-female, female-to-male, and female-to-female transmissions occurred in 46%, 11%, 32%, and 11%, respectively. CONCLUSION: Our study supports previous studies about familial aggregation of abdominal aortic aneurysms and suggests that first-degree family members, male relatives, in particular, are at increased risk. No single inheritance mode could explain the occurrence of abdominal aortic aneurysms in the 233 families studied here, suggesting that abdominal aortic aneursyms are a multifactorial disorder with multiple genetic and environmental risk factors. [less ▲]

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See detailCandidate locus for familial abdominal aortic aneurysms by genome-wide DNA linkage analysis
Shibamura, H.; Buxbaum, S.; Olson, J. M. et al

in Circulation (2002), 106(19, Suppl. S), 168

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See detailMajor Decrease in the Incidence of Trisomy 21 at Birth in South Belgium: Mass Impact of Triple Test?
Verloes, Alain ULg; Gillerot, Y.; Van Maldergem, Lionel ULg et al

in European Journal of Human Genetics (2001), 9(1), 1-4

In South Belgium (Wallonia), the 'triple test' was introduced in 1990-1991, and is nowadays a widely accepted screening method for assessment of trisomy 21 risk in pregnancy. The 'triple test' is not ... [more ▼]

In South Belgium (Wallonia), the 'triple test' was introduced in 1990-1991, and is nowadays a widely accepted screening method for assessment of trisomy 21 risk in pregnancy. The 'triple test' is not regulated and can be freely performed by any biomedical lab, making epidemiological data unavailable. By contrast, cytogenetic investigations are limited to a few genetic centres, and accurate statistics can be easily built from their files. During the period 1984-1989, a total of 244 trisomy 21 (1/876 pregnancies) were diagnosed in the Genetic Centres of Liege and Loverval, 42 (17%) of them prenatally. During the period 1993-1998, 294 trisomy 21 (1/704 pregnancies) were observed, 165 (56%) of which prenatally, and more than 90% of affected pregnancies were terminated. Even after correction for late foetal loss of trisomic foetuses, the difference is highly significant, and corresponds to a theoretical shift in the incidence of trisomy 21 at birth from 1/794 to 1/1606. As no remarkable progress occurred in other non-invasive prenatal screening procedures or general health care policies in Belgium, the most reasonable explanation is the use on a large scale of triple test by pregnant women, and the election of termination for most affected pregnancies. [less ▲]

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See detailEpisphalosomic Syndrome : A Mca Syndrome Ressembling Fanconi Anemia, with Increased Baseline Level of Chromosome Breaks but No Hypersensivity to Clastogens
Verloes, Alain ULg; JAMAR, Mauricette ULg; Dideberg, Vinciane ULg et al

in Annales de Génétique (2001), 44(2, Apr-Jun), 59-62

We describe a child with facial dysmorphism (trigonocephaly, epicanthus, upturned nose, small ears), thumb hypoplasia, micropenis, jejunal atresia and moderate mental retardation with dysphasia ... [more ▼]

We describe a child with facial dysmorphism (trigonocephaly, epicanthus, upturned nose, small ears), thumb hypoplasia, micropenis, jejunal atresia and moderate mental retardation with dysphasia. Cytogenetic workup revealed high spontaneous level of chromosomal aberrations (without specific pattern and no quadriradial figures) and borderline to absent hypersensitivity to mitomycin C, making a diagnosis of Fanconi anemia unlikely. The child described here shares similarities with a small number of previous reports. We suggest to refer to this entity as episphalosomic syndrome. Episphalosomic syndrome shows some clinical overlap with Fanconi anemia, but lacks its cytogenetic hallmark. The hematological complications of Fanconi anemia have not been reported in this entity. [less ▲]

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See detailFamilial Acromegaly: Case Report and Review of the Literature
Verloes, Alain ULg; Stevenaert, Achille ULg; Teh, B. T. et al

in Pituitary (1999), 1(3-4), 273-277

Familial acromegaly is an exceptional clinical entity when not associated with features of multiple endocrine neoplasia type 1 (MEN1). We report here 3 pedigrees in each of which 2 patients have been ... [more ▼]

Familial acromegaly is an exceptional clinical entity when not associated with features of multiple endocrine neoplasia type 1 (MEN1). We report here 3 pedigrees in each of which 2 patients have been shown to develop acromegaly. In 4 patients, clinical follow-up, and biological screening allowed to confidently exclude MEN1. Absence of mutation in the MEN1 gene after direct DNA analysis in 2 pedigrees reinforces the conviction that the families do not have MEN1. In families 1 and 2, diagnosis was made at a very early age and voluminous adenomas with suprasellar expansion were already present at the time of diagnosis. We review the 20 previous reports of familial acromegaly, some of them questionable. Our 3 families, combined with some other published pedigrees, allow the delineation of a familial form of acromegaly, distinct from MEN1. Dominant inheritance with reduced, age-dependant penetrance is the most parsimonious model to explain the recurrences. Gs protein pathway could be the site of action of the gene responsible of familial acromegaly, but no data have been published to sustain or reject this hypothesis. [less ▲]

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See detailAnalysis of coding sequences for tissue inhibitor of metalloproteinases 1 (TIMP1) and 2 (TIMP2) in patients with aneurysms.
Wang, Xingjun ULg; Tromp, G.; Cole, C. W. et al

in Matrix Biology (1999), 18(2), 121-4

Aneurysms are characterized by dilation, i.e. expansion and thinning of all the arterial wall layers, which is accompanied by remodeling of the connective tissue. Genes involved in the regulation of ... [more ▼]

Aneurysms are characterized by dilation, i.e. expansion and thinning of all the arterial wall layers, which is accompanied by remodeling of the connective tissue. Genes involved in the regulation of tissue remodeling are therefore candidate genes. We analyzed TIMP1 and TIMP2 coding sequences in 12 individuals with abdominal aortic aneurysms (AAA), one individual with AAA and intracranial aneurysms (IA), four individuals with IA and two clinically unaffected individuals. We identified two nucleotide variants in both the TIMP1 and the TIMP2 coding sequences. All differences occurred in the third base positions of codons and were neutral polymorphisms. A significant difference was observed in the frequency of TIMP2 nt 573 polymorphism between 168 alleles from AAA patients and 102 control alleles. [less ▲]

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See detailFamilial Acromegaly : Case report and review of the litterature
Beckers, Albert ULg; Stevenaert, Achille ULg; Teh, B. T. et al

in The 6th International Pituitary Congress - Abstract book (1999)

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See detailMutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.
Poncin, Jacques ULg; Abs, R.; Velkeniers, B. et al

in Human Mutation (1999), 13(1), 54-60

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in parathyroids, enteropancreatic endocrine tissues, anterior pituitary, and other tissues. The gene ... [more ▼]

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in parathyroids, enteropancreatic endocrine tissues, anterior pituitary, and other tissues. The gene for MEN1 has recently been cloned and shown to code for a 610-amino acid protein of enigmatic function which probably acts as a tumor suppressor. Several mutations causing the MEN1 phenotype have been recently identified. In order to determine the spectrum of MEN1 gene mutations in a sample of 25 Belgian patients, we have systematically screened the 10 exons and adjacent sequences of the MEN1 gene by means of an automatic sequencing protocol. Twelve different mutations were identified including nonsense, frameshift, splicing, and missense mutations. Two of these mutations (D172Y and 357del4) occurred more than once. A missense mutation was also found in a kindred with familial hyperparathyroidism. We observed no significant correlation between the nature or position of mutation and the clinical status. We have also detected 6 intragenic polymorphisms and DNA sequence variants and have analyzed their frequencies in our population. [less ▲]

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See detailJuvenile Rheumatoid Arthritis and Del(22q11) Syndrome: A Non-Random Association
Verloes, Alain ULg; Curry, C.; Jamar, Michelle ULg et al

in Journal of Medical Genetics (1998), 35(11), 943-7

Del(22q11) is a common microdeletion syndrome with an extremely variable phenotype. Besides classical manifestations, such as velocardiofacial (Shprintzen) or DiGeorge syndromes, del(22q11) syndrome may ... [more ▼]

Del(22q11) is a common microdeletion syndrome with an extremely variable phenotype. Besides classical manifestations, such as velocardiofacial (Shprintzen) or DiGeorge syndromes, del(22q11) syndrome may be associated with unusual but probably causally related anomalies that expand its phenotype and complicate its recognition. We report here three children with the deletion and a chronic, erosive polyarthritis resembling idiopathic cases of juvenile rheumatoid arthritis (JRA). Patient 1, born in 1983, initially presented with developmental delay, facial dysmorphism, velopharyngeal insufficiency, and severe gastro-oesophageal reflux requiring G tube feeding. From the age of 3 years, he developed JRA, which resulted in severe restrictive joint disease, osteopenia, and platyspondyly. Patient 2, born in 1976, had tetralogy of Fallot and peripheral pulmonary artery stenosis. She developed slowly, had mild dysmorphic facial features, an abnormal voice, and borderline intelligence. JRA was diagnosed at the age of 5 years. The disorder followed a subacute course, with relatively mild inflammatory phenomena, but an extremely severe skeletal involvement with major osteopenia, restrictive joint disease (bilateral hip replacement), and almost complete osteolysis of the carpal and tarsal bones with phalangeal synostoses, leading to major motor impairment and confinement to a wheelchair. Patient 3, born in 1990, has VSD, right embryo-toxon, bifid uvula, and facial dysmorphism. She developed JRA at the age of 1 year. She is not mentally retarded but has major speech delay secondary to congenital deafness inherited from her mother. In the three patients, a del(22q11) was shown by FISH analysis. These observations, and five other recently published cases, indicate that a JRA-like syndrome is a component of the del(22q11) spectrum. The deletion may be overlooked in those children with severe, chronic inflammatory disorder. [less ▲]

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See detailMutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type I and related diseases
Poncin, Jacques ULg; Abs, R.; Velkeniers, B. et al

in IV european Congress of Endocrinology - Abstract book (1998)

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