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Showing 1 to 12 of 19 entries
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Growth Hormone Research Society perspective on biomarkers of GH action in children and adults.

Endocrine connections

Johannsson G, Bidlingmaier M, Biller BMK, Boguszewski M, Casanueva FF, Chanson P, Clayton PE, Choong CS, Clemmons D, Dattani M, Frystyk J, Ho K, Hoffman AR, Horikawa R, Juul A, Kopchick JJ, Luo X, Neggers S, Netchine I, Olsson DS, Radovick S, Rosenfeld R, Ross RJ, Schilbach K, Solberg P, Strasburger C, Trainer P, Yuen KCJ, Wickstrom K, Jorgensen JOL.
PMID: 29483159
Endocr Connect. 2018 Mar;7(3):R126-R134. doi: 10.1530/EC-18-0047. Epub 2018 Feb 26.

OBJECTIVE: The Growth Hormone Research Society (GRS) convened a Workshop in 2017 to evaluate clinical endpoints, surrogate endpoints and biomarkers during GH treatment of children and adults and in patients with acromegaly.PARTICIPANTS: GRS invited 34 international experts including clinicians,...

[Maturation of the electroencephalogram and psychological development].

Revue de neuropsychiatrie infantile et d'hygiene mentale de l'enfance

Netchine S.
PMID: 5683041
Rev Neuropsychiatr Infant. 1968 Mar;16(3):249-56.

No abstract available.

[EEG and mental level. Study of a population group with a low intellectual level].

L'annee psychologique

NETCHINE S, TALAN I, LAIRY GC, ZAZZO R.
PMID: 14426596
Annee Psychol. 1959;59:355-72.

No abstract available.

The Importance of Collaboration in Advancing Understanding of Rare Disorders: US/EU Joint Initiative on Silver-Russell Syndrome.

Pediatric endocrinology reviews : PER

Salem JB, Netchine I, Harbison MD.
PMID: 29292872
Pediatr Endocrinol Rev. 2017 Nov;15:98-101. doi: 10.17458/per.vol15.2017.snh.importancecollaborationadvancing.

Patient-support organizations can facilitate a significant change in the way rare disorders are approached. Besides connecting families with each other and directing patients to experienced medical specialists, these groups, by collaborating with government initiatives like COST, can effect the...

The complete genome sequence of Clostridium indolis DSM 755(T.).

Standards in genomic sciences

Biddle AS, Leschine S, Huntemann M, Han J, Chen A, Kyrpides N, Markowitz V, Palaniappan K, Ivanova N, Mikhailova N, Ovchinnikova G, Schaumberg A, Pati A, Stamatis D, Reddy T, Lobos E, Goodwin L, Nordberg HP, Cantor MN, Hua SX, Woyke T, Blanchard JL.
PMID: 25197485
Stand Genomic Sci. 2014 Mar 18;9(3):1089-104. doi: 10.4056/sigs.5281010. eCollection 2014 Jun 15.

Clostridium indolis DSM 755(T) is a bacterium commonly found in soils and the feces of birds and mammals. Despite its prevalence, little is known about the ecology or physiology of this species. However, close relatives, C. saccharolyticum and C....

Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion.

Frontiers in endocrinology

Giabicani E, Chantot-Bastaraud S, Bonnard A, Rachid M, Whalen S, Netchine I, Brioude F.
PMID: 31114545
Front Endocrinol (Lausanne). 2019 Apr 30;10:263. doi: 10.3389/fendo.2019.00263. eCollection 2019.

We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double expression of

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care.

Clinical epigenetics

Eggermann T, Netchine I, Temple IK, Tümer Z, Monk D, Mackay D, Grønskov K, Riccio A, Linglart A, Maher ER.
PMID: 25784961
Clin Epigenetics. 2015 Mar 14;7:23. doi: 10.1186/s13148-015-0050-z. eCollection 2015.

Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is...

Bariatric Surgery Before Elective Anterior Cervical Discectomy and Fusion (ACDF) in Obese Patients Is Associated With Reduced Risk of 90-Day Postoperative Complications and Readmissions.

Clinical spine surgery

Malik AT, Noria S, Xu W, Retchin S, Yu ES, Khan SN.
PMID: 33290330
Clin Spine Surg. 2020 Dec 07; doi: 10.1097/BSD.0000000000001120. Epub 2020 Dec 07.

STUDY DESIGN: This was a national database study.OBJECTIVE: The objective of this study was to assess the impact of prior bariatric surgery (BS) on altering 90-day postoperative outcomes following elective anterior cervical discectomy and fusions (ACDFs).SUMMARY OF BACKGROUND DATA:...

Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants.

European journal of human genetics : EJHG

Pham A, Sobrier ML, Giabicani E, Le Jules Fernandes M, Mitanchez D, Brioude F, Netchine I.
PMID: 34276055
Eur J Hum Genet. 2021 Dec;29(12):1756-1761. doi: 10.1038/s41431-021-00927-5. Epub 2021 Jul 19.

Silver-Russell syndrome (SRS) is a rare imprinting disorder associated with prenatal and postnatal growth retardation. Loss of methylation (LOM) on chromosome 11p15 is observed in 40 to 60% of patients and maternal uniparental disomy (mUPD) for chromosome 7 (upd(7)mat)...

[Psychological and clinical significance of the spatial organization of the EEG in the child].

Revue neurologique

LAIRY GC, NETCHINE S.
PMID: 13758348
Rev Neurol (Paris). 1960 Apr;102:380-8.

No abstract available.

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Clinical epigenetics

Eggermann T, de Nanclares GP, Maher ER, Temple IK, Tümer Z, Monk D, Mackay DJ, Grønskov K, Riccio A, Linglart A, Netchine I.
PMID: 26958095
Clin Epigenetics. 2016 Mar 07;8:27. doi: 10.1186/s13148-016-0194-5. eCollection 2016.

[This corrects the article DOI: 10.1186/s13148-015-0143-8.].

Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.

Clinical dysmorphology

Fernández-Fructuoso JR, De la Torre-Sandoval C, Harbison MD, Chantot-Bastaraud S, Temple K, Lloreda-Garcia JM, Olmo-Sanchez M, Netchine I.
PMID: 34480472
Clin Dysmorphol. 2021 Oct 01;30(4):194-196. doi: 10.1097/MCD.0000000000000375.

Silver Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases, PLAG1 variants have been described (OMIM #618907). PLAG1 haploinsufficiency decreases Insulin-like growth factor...

Showing 1 to 12 of 19 entries